. Agarwal, J. N. Pooja, J. Wylie, O. Galceran, C. Arkhitko et al., Tbx5 Is Essential for Forelimb Bud Initiation Following Patterning of the Limb Field in the Mouse Embryo ». Development, vol.130, pp.623-656, 2003.

W. Ansorge, H. Voss, U. Wirkner, C. Schwager, J. Stegemann et al., Automated Sanger DNA Sequencing with One Label in Less than Four Lanes on Gel, Journal of Biochemical and Biophysical Methods, vol.20, issue.1, pp.47-52, 1989.

S. Aradhya, R. Lewis, T. Bonaga, N. Nwokekeh, A. Stafford et al., « Exon-Level Array CGH in a Large Clinical Cohort Demonstrates Increased Sensitivity of Diagnostic Testing for Mendelian Disorders », Genetics in Medicine, vol.14, issue.6, pp.594-603, 2012.

L. Arce, N. Yokoyama, and M. Waterman, Diversity of LEF/TCF Action in Development and Disease, vol.25, pp.7492-7504, 2006.

A. Bandyopadhyay, K. Tsuji, K. Cox, B. D. Harfe, V. Rosen et al., Genetic Analysis of the Roles of BMP2, BMP4, and BMP7 in Limb Patterning and Skeletogenesis », vol.2, p.216, 2006.

C. T. Basson, D. R. Bachinsky, R. C. Lin, T. Levi, J. A. Elkins et al., « Mutations in Human TBX5 [Corrected] Cause Limb and Cardiac Malformation in Holt-Oram Syndrome », Nature Genetics, vol.15, issue.1, pp.30-35, 1997.

S. Behjati and P. S. Tarpey, « What Is next Generation Sequencing?, Archives of Disease in Childhood. Education and Practice Edition, vol.98, issue.6, pp.236-274, 2013.

. Bejjani, A. Bassem, P. Aaron, . Theisen, C. Blake et al., « Array-Based Comparative Genomic Hybridization in Clinical Diagnosis, Expert Review of Molecular Diagnostics, vol.5, issue.3, pp.421-450, 2005.

J. Bénazet, M. Bischofberger, E. Tiecke, A. Gonçalves, J. F. Martin et al., « A Self-Regulatory System of Interlinked Signaling Feedback Loops Controls Mouse Limb Patterning, Science, vol.323, issue.5917, pp.1050-53, 2009.

G. Bergant, A. Maver, L. Lovrecic, and G. ?uturilo, « Comprehensive Use of Extended Exome Analysis Improves Diagnostic Yield in Rare Disease: A Retrospective Survey in 1,059 Cases », Genetics in Medicine: Official Journal of the American College of Medical Genetics, vol.20, issue.3, pp.303-315, 2018.

R. Y. Birnbaum, B. David, K. K. Everman, F. Murphy, C. E. Gurrieri et al., « Functional Characterization of Tissue-Specific Enhancers in the DLX5/6 Locus, Human Molecular Genetics, vol.21, issue.22, pp.4930-4968, 2012.

J. D. Boeke, G. Church, A. Hessel, N. J. Kelley, A. Arkin et al., Science, vol.353, issue.6295, pp.126-153, 2016.

J. Böhm, C. Sustmann, C. Wilhelm, and . Et-jürgen-kohlhase, « SALL4 Is Directly Activated by TCF/LEF in the Canonical Wnt Signaling Pathway, Biochemical and Biophysical Research Communications, vol.348, issue.3, pp.898-907, 2006.

W. Borozdin, D. Boehm, M. Leipoldt, C. Wilhelm, W. Reardon et al., « SALL4 Deletions Are a Common Cause of Okihiro and Acro-Renal-Ocular Syndromes and Confirm Haploinsufficiency as the Pathogenic Mechanism », Journal of Medical Genetics, vol.41, issue.9, p.113, 2004.

M. J. Bottomley, P. Lo-surdo, P. D. Giovine, A. Cirillo, R. Scarpelli et al., « Structural and Functional Analysis of the Human HDAC4 Catalytic Domain Reveals a Regulatory Structural Zinc-Binding Domain, The Journal of Biological Chemistry, vol.283, issue.39, pp.26694-704, 2008.

A. M. Boulet, M. R. Et, and . Capecchi, « Signaling by FGF4 and FGF8 Is Required for Axial Elongation of the Mouse Embryo », Developmental Biology, vol.371, issue.2, pp.235-280, 2012.


P. Brunelle, A. Jourdain, F. Escande, J. Martinovic, J. Dupont et al., « WNT10B Variants in Split Hand/Foot Malformation: Report of Three Novel Families and Review of the Literature », American Journal of Medical Genetics. Part A, vol.179, issue.7, pp.1351-56, 2019.

K. M. Cadigan and M. L. Waterman, « TCF/LEFs and Wnt Signaling in the Nucleus, Cold Spring Harbor Perspectives in Biology, vol.4, issue.11, pp.7906-007906, 2012.

T. D. Capellini, V. Zappavigna, L. Et, and . Selleri, « Pbx Homeodomain Proteins: TALEnted Regulators of Limb Patterning and Outgrowth, Developmental Dynamics: An Official Publication of the American Association of Anatomists, vol.240, issue.5, pp.1063-86, 2011.

G. L. Carvill, H. C. Et, and . Mefford, « Next-Generation Sequencing in Intellectual Disability, Journal of Pediatric Genetics, vol.4, issue.3, pp.128-163, 2015.

H. Chen, Y. Lun, D. Ovchinnikov, H. Kokubo, K. C. Oberg et al., « Limb and Kidney Defects in Lmx1b Mutant Mice Suggest an Involvement of LMX1B in Human Nail Patella Syndrome », Nature Genetics, vol.19, issue.1, pp.51-55, 1998.

H. Chen and R. L. Johnson, « Interactions between Dorsal-Ventral Patterning Genes Lmx1b, Engrailed-1 and Wnt-7a in the Vertebrate Limb, The International Journal of Developmental Biology, vol.46, issue.7, pp.937-978, 2002.

Y. Cheng, C. A. Tan, A. Minor, K. Arndt, L. Wysinger et al., « Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion, Molecular Genetics & Genomic Medicine, vol.2, issue.2, pp.115-138, 2014.

S. W. Cheung, W. Et, and . Bi, « Novel Applications of Array Comparative Genomic Hybridization in Molecular Diagnostics, Expert Review of Molecular Diagnostics, vol.18, issue.6, pp.531-573, 2018.

C. Chiang, Y. Litingtung, M. P. Harris, B. K. Simandl, Y. Li et al., « Manifestation of the Limb Prepattern: Limb Development in the Absence of Sonic Hedgehog Function », Developmental Biology, vol.236, issue.2, pp.421-456, 2001.

F. S. Collins, The Human Genome Project: Lessons from Large-Scale Biology, vol.300, pp.286-90, 2003.

T. E. Creighton, Proteins: Structures and Molecular Properties, 1993.

P. H. Crossley and G. R. Martin, « The Mouse Fgf8 Gene Encodes a Family of Polypeptides and Is Expressed in Regions That Direct Outgrowth and Patterning in the Developing Embryo, Development, vol.121, issue.2, pp.439-51, 1995.

T. J. Cunningham, J. Joseph, M. Lancman, P. Berenguer, G. Dong et al., « Genomic Knockout of Two Presumed Forelimb Tbx5 Enhancers Reveals They Are Nonessential for Limb Development », Cell Reports, vol.23, issue.11, pp.3146-51, 2018.

J. A. Cygan, R. L. Johnson, and A. P. Mcmahon, « Novel Regulatory Interactions Revealed by Studies of Murine Limb Pattern in Wnt-7a and En-1 Mutants, Development, vol.124, issue.24, pp.5021-5053, 1997.

L. Dai, D. Liu, M. Song, X. Xu, G. Xiong et al., « Mutations in the Homeodomain of HOXD13 Cause Syndactyly Type 1-c in Two Chinese Families », PloS One, vol.9, issue.5, p.96192, 2014.

D. L. Daniels, W. I. Et, and . Weis, « Beta-Catenin Directly Displaces Groucho/TLE Repressors from Tcf/Lef in Wnt-Mediated Transcription Activation », Nature Structural & Molecular Biology, vol.12, issue.4, pp.364-71, 2005.

M. Danyel, F. Kortüm, K. Dathe, K. Kutsche, D. Et et al., « Autosomal Dominant Robinow Syndrome Associated with a Novel DVL3 Splice Mutation, American Journal of Medical Genetics. Part A, vol.176, issue.4, pp.992-96, 2018.

A. Dauber, C. Golzio, C. Guenot, F. M. Jodelka, M. Kibaek et al., « SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant, American Journal of Human Genetics, vol.93, issue.5, pp.798-811, 2013.

A. David, M. Vincent, M. Quéré, T. Lefrançois, E. Frampas et al., Brachydactylies isolées et syndromiques : apport de la radiographie des mains, 2016.

A. Delaurier, C. L. Alvarez, K. J. Et, and . Wiggins, « Hdac4 Mediates Perichondral Ossification and Pharyngeal Skeleton Development in the Zebrafish, PeerJ, vol.7, 2019.

R. Dhamija and C. Chambers, « Diagnostic NGS for Severe Neuromuscular Disorders, Pediatric Neurology Briefs, vol.29, issue.11, p.82, 2015.

E. L. Dijk, H. Van, Y. Auger, . Jaszczyszyn, C. Et et al., « Ten Years of Next-Generation Sequencing Technology », Trends in Genetics: TIG, vol.30, issue.9, pp.418-444, 2014.


B. I. Dimitrov, T. De-ravel, J. Van-driessche, C. De-die-smulders, A. Toutain et al., « Distal Limb Deficiencies, Micrognathia Syndrome, and Syndromic Forms of Split Hand Foot Malformation (SHFM) Are Caused by Chromosome 10q Genomic Rearrangements », Journal of Medical Genetics, vol.47, issue.2, pp.103-114, 2010.


M. F. Dohrn, N. Glöckle, L. Mulahasanovic, C. Heller, J. Mohr et al., « Frequent Genes in Rare Diseases: Panel-Based next Generation Sequencing to Disclose Causal Mutations in Hereditary Neuropathies », Journal of Neurochemistry, vol.143, issue.5, pp.507-529, 2017.

N. Doumpas, F. Lampart, M. D. Robinson, A. Lentini, C. E. Nestor et al., « TCF/LEF Dependent and Independent Transcriptional Regulation of Wnt/?-Catenin Target Genes, The EMBO Journal, vol.38, issue.2, 2019.

. Dragojlovic, A. M. Nick, S. Elliott, C. Adam, A. Van-karnebeek et al., « The Cost and Diagnostic Yield of Exome Sequencing for Children with Suspected Genetic Disorders: A Benchmarking Study », Genetics in Medicine: Official Journal of the American College of Medical Genetics, vol.20, issue.9, pp.1013-1034, 2018.

S. D. Dreyer, G. Zhou, A. Baldini, A. Winterpacht, B. Zabel et al., « Mutations in LMX1B Cause Abnormal Skeletal Patterning and Renal Dysplasia in Nail Patella Syndrome », Nature Genetics, vol.19, issue.1, pp.47-50, 1998.

V. Duboc, P. O. Malcolm, and . Logan, Regulation of Limb Bud Initiation and Limb-Type Morphology, vol.240, pp.1017-1044, 2011.

Q. Eastman, R. Et, and . Grosschedl, « Regulation of LEF-1/TCF Transcription Factors by Wnt and Other Signals ». Current Opinion in, Cell Biology, vol.11, issue.2, pp.233-273, 1999.

E. Chehadeh, W. S. Salima, J. Kerstjens-frederikse, P. Thevenon, A. Kuentz et al., « Dominant Variants in the Splicing Factor PUF60 Cause a Recognizable Syndrome with Intellectual Disability, Heart Defects and Short Stature », European Journal of Human Genetics: EJHG, vol.25, issue.1, pp.43-51, 2016.

J. M. Ellingford, B. Horn, C. Campbell, G. Arno, S. Barton et al., « Assessment of the Incorporation of CNV Surveillance into Gene Panel Next-Generation Sequencing Testing for Inherited Retinal Diseases », Journal of Medical Genetics, vol.55, issue.2, pp.114-135, 2018.

A. M. Elliott, J. A. Evans, and A. E. Chudley, Split Hand Foot Malformation (SHFM), vol.68, pp.501-506, 2005.

E. Estefanía, R. Ramírez-camacho, M. Gomar, A. Trinidad, B. Arellano et al., « Point Mutation of an EYA1-Gene Splice Site in a Patient with Oto-Facio-Cervical Syndrome, Annals of Human Genetics, vol.70, pp.140-184, 2006.

Y. Fan, X. Zhang, L. Wang, R. Wang, Z. Huang et al., « Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of, Sexual Development ». Scientific Reports, vol.7, p.44536, 2017.

B. Feldman, W. Poueymirou, V. E. Papaioannou, T. M. Dechiara, and M. Goldfarb, « Requirement of FGF-4 for Postimplantation Mouse Development, Science, vol.267, issue.5195, pp.246-295, 1995.

M. Fernandez-teran and M. A. Ros, « The Apical Ectodermal Ridge: Morphological Aspects and Signaling Pathways, The International Journal of Developmental Biology, vol.52, issue.7, pp.857-71, 2008.

A. L. Fisher and M. Caudy, « Groucho Proteins: Transcriptional Corepressors for Specific Subsets of DNA-Binding Transcription Factors in Vertebrates and Invertebrates, Genes & Development, vol.12, issue.13, pp.1931-1971, 1998.

R. Flöttmann, S. Bjørt-k-kragesteen, M. Geuer, L. Socha, A. Allou et al., « Noncoding Copy-Number Variations Are Associated with Congenital Limb Malformation », Genetics in Medicine, vol.20, issue.6, pp.599-607, 2018.

. Frade-proud'hon-clerc, T. Sara, F. Smol, O. Frenois, E. Sand et al., « A Novel Rare Missense Variation of the NOD2 Gene: Evidencesof Implication in Crohn's Disease », International Journal of Molecular Sciences, vol.20, issue.4, 2019.

D. Furniss, S. Kan, I. Taylor, P. Johnson, H. Critchley et al., Genetic Screening of 202 Individuals with Congenital Limb Malformations and Requiring Reconstructive Surgery, vol.46, pp.730-765, 2009.
URL : https://hal.archives-ouvertes.fr/hal-00552690

J. Galceran, I. Fariñas, M. J. Depew, H. Clevers, and R. Grosschedl, Wnt3a-/--like Phenotype and Limb Deficiency in Lef1, vol.13, pp.709-726, 1999.

H. Ghaedi, S. M. Ramsheh, M. E. Omidvar, A. Labbaf, E. Alehabib et al., Fatemeh Pourfatemi, et Hossein Darvish. 2019. « Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome, Genes & Diseases, juillet

T. K. Ghosh, E. A. Packham, A. J. Bonser, T. E. Robinson, S. J. Cross et al., « Characterization of the TBX5 Binding Site and Analysis of Mutations That Cause Holt-Oram Syndrome », Human Molecular Genetics, vol.10, issue.18, pp.1983-94, 2001.

J. Ghoumid, F. Petit, M. Holder-espinasse, A. Jourdain, J. Guerra et al., « Nail-Patella Syndrome: Clinical and Molecular Data in 55 Families Raising the Hypothesis of a Genetic Heterogeneity, European Journal of Human Genetics, vol.24, issue.1, pp.44-50, 2016.


J. Ghoumid, M. Stichelbout, A. Jourdain, F. Frenois, S. Lejeune-dumoulin et al., « Blepharocheilodontic Syndrome Is a CDH1 Pathway-Related Disorder Due to Mutations in CDH1 and CTNND1 », Genetics in Medicine: Official Journal of the American College of Medical Genetics, vol.19, issue.9, pp.1013-1034, 2017.


K. Giese, A. Amsterdam, and R. Grosschedl, « DNA-Binding Properties of the HMG Domain of the Lymphoid-Specific Transcriptional Regulator LEF-1 », Genes & Development, vol.5, issue.12B, pp.2567-78, 1991.

C. T. Gordon, F. Petit, P. M. Kroisel, L. Jakobsen, R. Maria-zechi-ceide et al., « Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears, American Journal of Human Genetics, vol.93, issue.6, pp.1118-1143, 2013.

C. T. Gordon, F. Petit, M. Oufadem, C. Decaestecker, A. Jourdain et al., EFTUD2 Haploinsufficiency Leads to Syndromic Oesophageal Atresia, vol.49, pp.737-783, 2012.
URL : https://hal.archives-ouvertes.fr/hal-01274605

H. Grandel and M. Brand, « Zebrafish Limb Development Is Triggered by a Retinoic Acid Signal during Gastrulation, Developmental Dynamics: An Official Publication of the American Association of Anatomists, vol.240, issue.5, pp.1116-1142, 2011.

E. Green, E. D. Green, S. Mark, and . Guyer, et National Human Genome Research Institute. 2011. « Charting a Course for Genomic Medicine from Base Pairs to Bedside », Twenty-five years of big biology, vol.526, pp.204-217, 2015.

R. C. Green, J. S. Berg, W. W. Grody, S. S. Kalia, B. R. Korf et al., « ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing », Genetics in Medicine, vol.15, issue.7, pp.565-74, 2013.

A. M. Gross, S. Subramanian, V. Ajay, C. Rajan, K. Brown et al., « Copy-Number Variants in Clinical Genome Sequencing: Deployment and Interpretation for Rare and Undiagnosed Disease », Genetics in Medicine: Official Journal of the American College of Medical Genetics, vol.21, issue.5, pp.1121-1151, 2019.

K. Grzeschik, Human Limb Malformations; an Approach to the Molecular Basis of Development, p.9, 2002.

. Haro, B. A. Endika, J. M. Watson, L. Feenstra, C. U. Tegeler et al., Lmx1b-Targeted Cis-Regulatory Modules Involved in Limb Dorsalization ». Development, vol.144, pp.2009-2029, 2017.

S. A. Harvey, « Sall4 Acts Downstream of Tbx5 and Is Required for Pectoral Fin Outgrowth, Development, vol.133, issue.6, pp.1165-73, 2006.

M. L. Hastings, E. Allemand, M. Dominik, M. P. Duelli, A. R. Myers et al., « Control of Pre-MRNA Splicing by the General Splicing Factors PUF60 and U2AF65 ». Édité par Juan Valcarcel, PLoS ONE, vol.2, issue.6, p.538, 2007.

R. A. Hegele, « Copy-Number Variations and Human Disease, The American Journal of Human Genetics, vol.81, issue.2, pp.414-429, 2007.

N. D. Heintzman, B. Et, and . Ren, « Finding Distal Regulatory Elements in the Human Genome, Current Opinion in Genetics & Development, vol.19, issue.6, pp.541-590, 2009.


M. Holder-espinasse, A. Jamsheer, F. Escande, J. Andrieux, F. Petit et al., Duplication of 10q24 Locus: Broadening the Clinical and Radiological Spectrum, vol.27, pp.525-559, 2019.
URL : https://hal.archives-ouvertes.fr/hal-02268426

D. Hrckulak, M. Kolar, H. Strnad, V. Et, and . Korinek, « TCF/LEF Transcription Factors: An Update from the Internet Resources, Cancers, vol.8, issue.7, 2016.

J. Hua and Y. Wan, « Whole-Exome Sequencing Identified a Novel Mutation of AURKC in a Chinese Family with Macrozoospermia », Journal of Assisted Reproduction and Genetics, vol.36, issue.3, pp.529-563, 2019.

D. M. Ibrahim, N. Tayebi, A. Knaus, A. C. Stiege, A. Sahebzamani et al., Stefan Mundlos, et Malte Spielmann. 2016. « A Homozygous HOXD13 Missense Mutation Causes a Severe Form of Synpolydactyly with Metacarpal to Carpal Transformation, American Journal of Medical Genetics. Part A, vol.170, issue.3, pp.615-636

T. Inobe and A. Matouschek, « Paradigms of protein degradation by the proteasome, Current opinion in structural biology 0 (février, pp.156-64, 2014.

. Ionita-laza, A. J. Iuliana, C. Rogers, B. A. Lange, C. Raby et al., Genetic Association Analysis of Copy-Number Variation (CNV) in Human Disease Pathogenesis, vol.93, pp.22-26, 2009.

T. Isogai, M. Et, and . Innocenti, « New Nuclear and Perinuclear Functions of Formins, Biochemical Society Transactions, vol.44, issue.6, pp.1701-1709, 2016.

S. Jamuar, J. Shekhar, M. Ling-kuan, Z. Brett, W. Tiang et al., « Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?, EBioMedicine, vol.5, issue.mars, pp.211-227, 2016.

B. H. Jennings and D. Ish-horowicz, « The Groucho/TLE/Grg family of transcriptional corepressors », Genome Biology, vol.9, issue.1, p.205, 2008.

G. Jindal, V. Parmar, V. Et, and . Kumar, « Ectrodactyly/Split Hand Feet Malformation, Indian Journal of Human Genetics, vol.15, issue.3, p.140, 2009.

A. W. Joseph, H. Ashley, E. L. Shoemaker, and . Germain-lee, « Increased Prevalence of Carpal Tunnel Syndrome in Albright Hereditary Osteodystrophy, The Journal of Clinical Endocrinology and Metabolism, vol.96, issue.7, pp.2065-73, 2011.

A. Jourdain, F. Petit, M. Odou, M. Balduyck, P. Brunelle et al., Multiplex Targeted High-throughput Sequencing in a Series of 352 Patients with Congenital Limb Malformations ». Human Mutation, 2019.
URL : https://hal.archives-ouvertes.fr/hal-02393697

P. N. Kantaputra, B. M. Et, and . Carlson, « Genetic regulatory pathways of split-hand/foot malformation », Clinical Genetics, vol.95, issue.1, pp.132-171, 2019.

A. A. Kashevarova, P. Lyudmila, N. A. Nazarenko, O. A. Skryabin, N. N. Salyukova et al., « Array CGH Analysis of a Cohort of Russian Patients with Intellectual Disability, Gene, vol.536, issue.1, pp.145-50, 2014.


Y. Kawakami, J. Capdevila, D. Büscher, T. Itoh, C. Esteban et al., « WNT Signals Control FGF-Dependent Limb Initiation and AER Induction in the Chick Embryo, Cell, vol.104, issue.6, pp.285-294, 2001.

R. Ke and M. Mignardi, « Fourth Generation of Next-Generation Sequencing Technologies: Promise and Consequences », Human Mutation, vol.37, issue.12, pp.1363-67, 2016.

M. Kengaku, J. Capdevila, C. Rodriguez-esteban, J. De-la-peña, R. L. Johnson et al., Distinct WNT Pathways Regulating AER Formation and Dorsoventral Polarity in the Chick Limb Bud ». Science, vol.280, pp.1274-77, 1998.


K. Keyal, B. Joshi, R. Pandey, B. Et, and . Shrestha, Ectrodactyly: A rare anomaly of limbs, vol.31, pp.235-272, 2011.

M. Kmita, B. Tarchini, J. Zàkàny, M. Logan, and C. J. Tabin, « Early Developmental Arrest of Mammalian Limbs Lacking HoxA/HoxD Gene Function », Nature, vol.435, issue.7045, pp.1113-1129, 2005.

L. Kock, Y. C. De, T. Wang, D. Revil, B. Badescu et al., « High-Sensitivity Sequencing Reveals Multi-Organ Somatic Mosaicism Causing DICER1 Syndrome », Journal of Medical Genetics, vol.53, issue.1, pp.43-52, 2016.

H. C. Korswagen and H. C. Clevers, « Activation and Repression of Wingless/Wnt Target Genes by the TCF/LEF-1 Family of Transcription Factors, Cold Spring Harbor Symposia on Quantitative Biology, vol.64, pp.141-188, 1999.

K. Koshiba-takeuchi, K. Jun, E. P. Takeuchi, . Arruda, S. Irfan et al., « Cooperative and Antagonistic Interactions between Sall4 and Tbx5 Pattern the Mouse Limb and Heart », Nature Genetics, vol.38, issue.2, pp.175-83, 2006.

. Koshiba-takeuchi, J. K. Kazuko, E. P. Takeuchi, I. S. Arruda, R. Kathiriya et al., « Cooperative and Antagonistic Interactions between Sall4 and Tbx5 Pattern the Mouse Limb and Heart », Nature Genetics, vol.38, issue.2, pp.175-83, 2006.

K. Kothur, K. Holman, E. Farnsworth, G. Ho, M. Lorentzos et al., Diagnostic Yield of Targeted Massively Parallel Sequencing in Children with Epileptic Encephalopathy, vol.59, pp.132-172, 2018.


M. Krahn, M. Cerino, E. Campana-salort, M. Et, and . Cossée, Towards a national standardisation of NGS studies in the diagnosis of myopathies] ». Medecine Sciences: M/S 33 Hors série n°1 (novembre, pp.30-33, 2017.

M. Kurban, M. Wajid, L. Petukhova, Y. Shimomura, A. M. Et et al., « A Nonsense Mutation in the HOXD13 Gene Underlies Synpolydactyly with Incomplete Penetrance », Journal of Human Genetics, vol.56, issue.10, pp.701-707, 2011.

L. Allen, R. Hana, W. Caswell, X. Xie, C. Xu et al., « Next Generation Sequencing of Chromosomal Rearrangements in Patients with Split-Hand/Split-Foot Malformation Provides Evidence for DYNC1I1 Exonic Enhancers of DLX5/6 Expression in Humans, Journal of Medical Genetics, vol.51, issue.4, pp.264-67, 2014.

C. Lee, S. Lin, C. Lin, J. Shih, T. Lin et al., « Clinical Utility of Array Comparative Genomic Hybridisation for Prenatal Diagnosis: A Cohort Study of 3171 Pregnancies, An International Journal of Obstetrics & Gynaecology, vol.119, issue.5, pp.614-639, 2012.

K. Lehmann, P. Seemann, J. Boergermann, and G. Morin, Silke Reif, Petra Knaus, et Stefan Mundlos. 2006. « A Novel R486Q Mutation in BMPR1B Resulting in Either a Brachydactyly Type C/Symphalangism-like Phenotype or Brachydactyly Type A2, European Journal of Human Genetics: EJHG, vol.14, issue.12, pp.1248-54

C. Leroy, E. Landais, S. Briault, A. David, O. Tassy et al., « The 2q37-Deletion Syndrome: An Update of the Clinical Spectrum Including Overweight, Brachydactyly and Behavioural Features in 14 New Patients, European Journal of Human Genetics: EJHG, vol.21, issue.6, pp.602-614, 2013.

L. A. Lettice, J. H. Simon, L. A. Heaney, L. Purdie, P. Li et al., « A Long-Range Shh Enhancer Regulates Expression in the Developing Limb and Fin and Is Associated with Preaxial Polydactyly, Human Molecular Genetics, vol.12, issue.14, pp.1725-1760, 2003.

L. A. Lettice, I. Williamson, P. S. Devenney, F. Kilanowski, J. Dorin et al., « Development of Five Digits Is Controlled by a Bipartite Long-Range Cis-Regulator, Development, vol.141, issue.8, pp.1715-1740, 2014.

O. Levran, T. Erlich, N. Magdalena, J. J. Gregory, S. D. Batish et al., « Sequence Variation in the Fanconi Anemia Gene FAA, Proceedings of the National Academy of Sciences of the United States of America, vol.94, issue.24, pp.13051-56, 1997.


L. Li and X. Yang, « Molecular and Functional Characterization of Histone Deacetylase 4 (HDAC4) », Methods in Molecular Biology, vol.1436, pp.31-45, 2016.

Q. Y. Li, R. A. Newbury-ecob, J. A. Terrett, D. I. Wilson, A. R. Curtis et al., « Holt-Oram Syndrome Is Caused by Mutations in TBX5, a Member of the Brachyury (T) Gene Family », Nature Genetics, vol.15, issue.1, pp.21-29, 1997.

K. J. Low, M. Ansari, R. Abou-jamra, A. Clarke, S. E. Chehadeh et al., « PUF60 Variants Cause a Syndrome of ID, Short Stature, Microcephaly, Coloboma, Craniofacial, Cardiac, Renal and Spinal Features », European Journal of Human Genetics: EJHG, vol.25, issue.5, pp.552-59, 2017.

K. J. Low, A. Ruth, R. A. Newbury-ecob, and . Nwbury-ecob, « Homozygous Nonsense Mutation in HOXD13 Underlies Synpolydactyly with a Cleft », Clinical Dysmorphology, vol.21, issue.3, pp.141-184, 2012.

F. Lu, Y. Sun, C. Wei, C. Thisse, B. Et et al., « Tissue-Specific Derepression of TCF/LEF Controls the Activity of the Wnt/?-Catenin Pathway », Nature Communications, vol.5, issue.1, pp.1-10, 2014.

D. G. Lupiáñez, M. Spielmann, S. Et, and . Mundlos, « Breaking TADs: How Alterations of Chromatin Domains Result in Disease », Trends in Genetics: TIG, vol.32, issue.4, pp.225-262, 2016.


S. Malik, « Polydactyly: Phenotypes, Genetics and Classification », Clinical Genetics, vol.85, issue.3, pp.203-215, 2014.

E. Manolakos, A. Vetro, K. Kefalas, S. Rapti, E. Louizou et al., « The Use of Array-CGH in a Cohort of Greek Children with Developmental Delay », Molecular Cytogenetics, vol.3, issue.1, p.22, 2010.

S. Manouvrier-hanu, M. Holder-espinasse, and E. S. Lyonnet, Genetics of Limb Anomalies in Humans, vol.15, pp.409-426, 1999.

S. Manouvrier-hanu, A. Et, and . Mezel, « Classification des malformations congénitales des membres, EMC -Appareil locomoteur, vol.5, issue.4, pp.50139-50145, 2010.

T. A. Mansour, K. Lucot, S. E. Konopelski, P. J. Dickinson, B. K. Sturges et al., « Whole Genome Variant Association across 100 Dogs Identifies a Frame Shift Mutation in DISHEVELLED 2 Which Contributes to Robinow-like Syndrome in Bulldogs and Related Screw Tail Dog Breeds », PLoS Genetics, vol.14, issue.12, p.1007850, 2018.

E. R. Mardis, « Next-Generation Sequencing Platforms, Annual Review of Analytical Chemistry, vol.6, pp.287-303, 2013.

F. V. Mariani, P. Christina, G. R. Ahn, and . Martin, Genetic Evidence That FGFs Have an Instructive Role in Limb Proximal-Distal Patterning, vol.453, pp.401-406, 2008.

G. R. Martin, The Roles of FGFs in the Early Development of Vertebrate Limbs, vol.12, pp.1571-86, 1998.

F. Martínez, A. Caro-llopis, M. Roselló, S. Oltra, S. Mayo et al., « High Diagnostic Yield of Syndromic Intellectual Disability by Targeted Next-Generation Sequencing », Journal of Medical Genetics, vol.54, issue.2, pp.87-92, 2017.


A. M. Maxam and W. Gilbert, « A New Method for Sequencing DNA, » Proceedings of the National Academy of Sciences, vol.74, issue.2, pp.560-64, 1977.

O. Medina-martínez, A. Bradley, and R. Ramírez-solis, « A Large Targeted Deletion of Hoxb1-Hoxb9 Produces a Series of Single-Segment Anterior Homeotic Transformations », Developmental Biology, vol.222, issue.1, pp.71-83, 2000.

M. L. Metzker, « Sequencing Technologies -the next Generation », Nature Reviews. Genetics, vol.11, issue.1, pp.31-46, 2010.

A. A. Mills, B. Zheng, X. J. Wang, H. Vogel, D. R. Roop et al., « P63 Is a P53 Homologue Required for Limb and Epidermal Morphogenesis », Nature, vol.398, issue.6729, pp.708-721, 1999.

X. J. Mollerat, F. De, C. T. Gurrieri, E. Morgan, D. B. Sangiorgi et al., « A Genomic Rearrangement Resulting in a Tandem Duplication Is Associated with Split Hand-Split Foot Malformation 3 (SHFM3) at 10q24 », Human Molecular Genetics, vol.12, issue.16, pp.1959-71, 2003.

M. Morine, T. Kohmoto, K. Masuda, H. Inagaki, M. Watanabe et al., Kazuhisa Maeda, et Issei Imoto. 2015. « A Unique TBX5 Microdeletion with Microinsertion Detected in Patient with Holt-Oram Syndrome, American Journal of Medical Genetics. Part A, vol.167, issue.12, pp.3192-96

M. Muenke, U. Schell, A. Hehr, N. H. Robin, H. W. Losken et al., « A Common Mutation in the Fibroblast Growth Factor Receptor 1 Gene in Pfeiffer Syndrome », Nature Genetics, vol.8, issue.3, pp.269-74, 1994.

A. Nagalski, M. Irimia, L. Szewczyk, J. L. Ferran, K. Misztal et al., « Postnatal Isoform Switch and Protein Localization of LEF1 and TCF7L2 Transcription Factors in Cortical, Thalamic, and Mesencephalic Regions of the Adult Mouse Brain, Brain Structure and Function, vol.218, issue.6, pp.1531-1580, 2013.

J. M. Nakamoto, D. Zimmerman, E. A. Jones, K. Y. Loke, K. Siddiq et al., « Concurrent Hormone Resistance (Pseudohypoparathyroidism Type Ia) and Hormone Independence (Testotoxicosis) Caused by a Unique Mutation in the G Alpha s Gene », Biochemical and Molecular Medicine, vol.58, issue.1, pp.18-24, 1996.

. Nishimoto, S. M. Satoko, S. Wilde, . Wood, P. O. Malcolm et al., « RA Acts in a Coherent Feed-Forward Mechanism with Tbx5 to Control Limb Bud Induction and Initiation », Cell Reports, vol.12, issue.5, pp.879-91, 2015.

K. Ohtaka, Y. Fujisawa, F. Takada, Y. Hasegawa, T. Miyoshi et al., « FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region », Human Mutation, vol.38, issue.5, pp.503-509, 2017.

P. S. Page-mccaw, K. Amonlirdviman, and P. A. Sharp, PUF60: A Novel U2AF65-Related Splicing Activity ». RNA, vol.5, pp.1548-60, 1999.

F. Petit, J. A.-s.-jourdain, G. Andrieux, C. Baujat, C. Baumann et al., « Split Hand/Foot Malformation with Long-Bone Deficiency and BHLHA9 Duplication: Report of 13 New Families », Clinical Genetics, vol.85, issue.5, pp.464-69, 2014.

F. Petit, A. Jourdain, M. Holder-espinasse, B. Keren, J. Andrieux et al., « The Disruption of a Novel Limb Cis-Regulatory Element of SHH Is Associated with Autosomal Dominant Preaxial Polydactyly-Hypertrichosis », European Journal of Human Genetics, vol.24, issue.1, pp.37-43, 2016.

F. Petit, K. E. Sears, and N. Ahituv, « Limb Development: A Paradigm of Gene Regulation, Nature Reviews Genetics, vol.18, issue.4, pp.245-58, 2017.

S. Pizette, C. Abate-shen, and E. L. Niswander, « BMP Controls Proximodistal Outgrowth, via Induction of the Apical Ectodermal Ridge, and Dorsoventral Patterning in the Vertebrate Limb, vol.128, pp.4463-74, 2001.

S. Pizette, L. Et, and . Niswander, « BMPs Negatively Regulate Structure and Function of the Limb Apical Ectodermal Ridge, Development, vol.126, issue.5, pp.883-94, 1999.

K. D. Poss, J. Shen, and M. T. Keating, « Induction of Lef1 during Zebrafish Fin Regeneration, Developmental Dynamics: An Official Publication of the American Association of Anatomists, vol.219, issue.2, pp.282-86, 2000.

J. W. Potuijt, M. Baas, R. Sukenik-halevy, H. Douben, P. Nguyen et al., « A Point Mutation in the Pre-ZRS Disrupts Sonic Hedgehog Expression in the Limb Bud and Results in Triphalangeal Thumb-Polysyndactyly Syndrome », Genetics in Medicine, vol.20, issue.11, pp.1405-1418, 2018.

C. Rallis, G. Benoit, J. D. Bruneau, C. E. Buono, J. G. Seidman et al., Tbx5 Is Required for Forelimb Bud Formation and Continued Outgrowth ». Development, vol.130, pp.2741-51, 2003.

C. Redin, B. Gérard, J. Lauer, Y. Herenger, J. Muller et al., « Efficient Strategy for the Molecular Diagnosis of Intellectual Disability Using Targeted High-Throughput Sequencing », Journal of Medical Genetics, vol.51, issue.11, pp.724-760, 2014.

E. S. Reid, A. Papandreou, S. Drury, C. Boustred, W. W. Yue et al., Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes, Brain, vol.139, issue.11, pp.2844-54, 2016.


S. Richards, N. Aziz, S. Bale, D. Bick, S. Das et al., « Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for, Molecular Pathology ». Genetics in Medicine: Official Journal of the American College of Medical Genetics, vol.17, issue.5, pp.405-429, 2015.

S. Rickard, M. Parker, W. Hoff, A. Barnicoat, I. Russell-eggitt et al., « Oto-Facio-Cervical (OFC) Syndrome Is a Contiguous Gene Deletion Syndrome Involving EYA1: Molecular Analysis Confirms Allelism with BOR Syndrome and Further Narrows the Duane Syndrome Critical Region to 1 CM », Human Genetics, vol.108, issue.5, pp.398-403, 2001.

R. D. Riddle, M. Ensini, C. Nelson, T. Tsuchida, T. M. Jessell et al., « Induction of the LIM Homeobox Gene Lmx1 by WNT7a Establishes Dorsoventral Pattern in the Vertebrate Limb, Cell, vol.83, issue.4, pp.631-671, 1995.

R. D. Riddle, R. L. Johnson, E. Laufer, and C. Tabin, Sonic Hedgehog Mediates the Polarizing Activity of the ZPA, vol.75, pp.1401-1417, 1993.

. Rohmann, H. G. Edyta, H. Brunner, O. Kayserili, G. Uyguner et al., « Mutations in Different Components of FGF Signaling in LADD Syndrome », Nature Genetics, vol.38, issue.4, pp.414-431, 2006.

D. A. Rowe, J. M. Cairns, and J. F. Fallon, « Spatial and Temporal Patterns of Cell Death in Limb Bud Mesoderm after Apical Ectodermal Ridge Removal », Developmental Biology, vol.93, issue.1, pp.83-91, 1982.

E. Samorodnitsky, J. Datta, B. M. Jewell, R. Hagopian, J. Miya et al., « Comparison of Custom Capture for Targeted Next-Generation DNA Sequencing, The Journal of Molecular Diagnostics: JMD, vol.17, issue.1, pp.64-75, 2015.

E. Samorodnitsky, B. M. Jewell, R. Hagopian, J. Miya, M. R. Wing et al., « Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing », Human Mutation, vol.36, issue.9, pp.903-917, 2015.


F. Sanger, A. R. Et, and . Coulson, « The Use of Thin Acrylamide Gels for DNA Sequencing », FEBS Letters, vol.87, issue.1, pp.107-117, 1978.

F. Sanger, S. Nicklen, and A. R. Coulson, « DNA Sequencing with Chain-Terminating Inhibitors, Proceedings of the National Academy of Sciences of the United States of America, vol.74, pp.5463-67, 1977.

F. Santos-simarro, E. Vallespin, A. Pozo, K. Ibañez, J. C. Silla et al., « Eye Coloboma and Complex Cardiac Malformations Belong to the Clinical Spectrum of PUF60 Variants », Clinical Genetics, vol.92, issue.3, pp.350-51, 2017.

J. W. Saunders, M. T. Gasseling, and J. E. Errick, « Inductive Activity and Enduring Cellular Constitution of a Supernumerary Apical Ectodermal Ridge Grafted to the Limb Bud of the Chick Embryo, Developmental Biology, vol.50, issue.1, pp.16-25, 1976.

E. E. Schadt, S. Turner, and A. Kasarskis, « A Window into Third-Generation Sequencing, Human Molecular Genetics, vol.19, issue.R2, pp.227-240, 2010.

P. J. Scherz, « The Limb Bud Shh-Fgf Feedback Loop Is Terminated by Expansion of Former ZPA Cells, Science, vol.305, issue.5682, pp.396-99, 2004.

M. Schmidt, M. Patterson, E. Farrell, A. Et, and . Münsterberg, « Dynamic Expression of Lef/Tcf Family Members and Beta-Catenin during Chick Gastrulation, Neurulation, and Early Limb Development ». Developmental Dynamics: An Official Publication of the, American Association of Anatomists, vol.229, issue.3, pp.703-710, 2004.

J. Schuijers, M. Mokry, P. Hatzis, E. Cuppen, H. Et et al., « Wnt-induced transcriptional activation is exclusively mediated by TCF/LEF, The EMBO Journal, vol.33, issue.2, pp.146-56, 2014.

K. Sekine, H. Ohuchi, M. Fujiwara, M. Yamasaki, T. Yoshizawa et al., « Fgf10 Is Essential for Limb and Lung Formation », Nature Genetics, vol.21, issue.1, pp.138-179, 1999.

E. Shimizu, N. Selvamurugan, J. J. Westendorf, E. N. Olson, C. Et-nicola et al., « HDAC4 Represses Matrix Metalloproteinase-13 Transcription in Osteoblastic Cells, and Parathyroid Hormone Controls This Repression, The Journal of Biological Chemistry, vol.285, issue.13, pp.9616-9642, 2010.

M. Shinawi and S. W. Cheung, « The array CGH and its clinical applications, Drug Discovery Today, vol.13, issue.17, pp.760-70, 2008.

N. Simonis, I. Migeotte, N. Lambert, C. Perazzolo, C. Deepthi et al., « FGFR1 Mutations Cause Hartsfield Syndrome, the Unique Association of Holoprosencephaly and Ectrodactyly, Journal of Medical Genetics, vol.50, issue.9, pp.585-92, 2013.

S. Singer, V. Ehemann, A. Brauckhoff, M. Keith, S. Vreden et al., « Protumorigenic Overexpression of Stathmin/Op18 by Gain-of-Function Mutation in P53 in Human Hepatocarcinogenesis, Hepatology, vol.46, issue.3, pp.759-68, 2007.


S. A. Soper, D. C. Williams, Y. Xu, S. J. Lassiter, Y. Zhang et al., « Sanger DNA-Sequencing Reactions Performed in a Solid-Phase Nanoreactor Directly Coupled to Capillary Gel Electrophoresis, Analytical Chemistry, vol.70, pp.4036-4079, 1998.

M. Spielmann and E. Klopocki, CNVs of Noncoding Cis-Regulatory Elements in Human Disease, vol.23, pp.249-56, 2013.


J. L. Stoddard, J. E. Niemela, T. A. Fleisher, and S. D. Rosenzweig, « Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs », Frontiers in Immunology, vol.5, p.531, 2014.

P. Su, H. Ding, D. Huang, Y. Zhou, W. Huang et al., « A 4.6 Kb Genomic Duplication on 20p12.2-12.3 Is Associated with Brachydactyly Type A2 in a Chinese Family, Journal of Medical Genetics, vol.48, issue.5, pp.312-328, 2011.


H. Suemori, S. Et, and . Noguchi, « Hox C Cluster Genes Are Dispensable for Overall Body Plan of Mouse Embryonic Development », Developmental Biology, vol.220, issue.2, pp.333-375, 2000.


D. Summerbell, « A Quantitative Analysis of the Effect of Excision of the AER from the Chick Limb-Bud », Journal of Embryology and Experimental Morphology, vol.32, issue.3, pp.651-60, 1974.

X. Sun, M. Lewandoski, E. N. Meyers, Y. Liu, R. E. Maxson et al., « Conditional Inactivation of Fgf4 Reveals Complexity of Signalling during Limb Bud Development », Nature Genetics, vol.25, issue.1, pp.83-86, 2000.

K. Tanaka, « Formin Family Proteins in Cytoskeletal Control ». Biochemical and Biophysical Research Communications, vol.267, issue.2, pp.479-81, 2000.

N. Tayebi, A. Jamsheer, R. Flöttmann, A. Sowinska-seidler, S. C. Doelken et al., « Deletions of Exons with Regulatory Activity at the DYNC1I1 Locus Are Associated with Split-Hand/Split-Foot Malformation: Array CGH Screening of 134 Unrelated Families, Orphanet Journal of Rare Diseases, vol.9, p.108, 2014.

W. L. Todt and J. F. Fallon, « Posterior Apical Ectodermal Ridge Removal in the Chick Wing Bud Triggers a Series of Events Resulting in Defective Anterior Pattern Formation, Development, vol.101, issue.3, pp.501-516, 1987.

P. Tompa, J. Prilusky, I. Silman, and J. L. Sussman, « Structural Disorder Serves as a Weak Signal for Intracellular Protein Degradation, Proteins, vol.71, issue.2, pp.903-912, 2008.

S. Ugur, . Aylin, and . Et-aslihan-tolun, « Homozygous WNT10b Mutation and Complex Inheritance in Split-Hand/Foot Malformation, Human Molecular Genetics, vol.17, issue.17, pp.2644-53, 2008.


M. Umair, A. Ullah, S. Abbas, F. Ahmad, S. Basit et al., « First Direct Evidence of Involvement of a Homozygous Loss-of-Function Variant in the EPS15L1 Gene Underlying Split-Hand/Split-Foot Malformation », Clinical Genetics, vol.93, issue.3, pp.699-702, 2018.

C. Vanlerberghe, A. A.-s.-jourdain, A. Dieux, B. Toutain, S. Callewaert et al., « Small Patella Syndrome: New Clinical and Molecular Insights into a Consistent Phenotype », Clinical Genetics, vol.92, issue.6, pp.676-78, 2017.

C. Vanlerberghe, A. Jourdain, J. Ghoumid, F. Frenois, A. Mezel et al., « Holt-Oram Syndrome: Clinical and Molecular Description of 78 Patients with TBX5 Variants, European Journal of Human Genetics, vol.27, issue.3, pp.360-68, 2019.

N. Vargesson, The Teratogenic Effects of Thalidomide on Limbs, vol.44, pp.88-95, 2019.

R. B. Vega, K. Matsuda, J. Oh, A. C. Barbosa, X. Yang et al., Histone Deacetylase 4 Controls Chondrocyte Hypertrophy during Skeletogenesis, vol.119, pp.555-66, 2004.

S. Vergult, A. , J. M. Hoogeboom, E. K. Bijlsma, T. Sante et al., « Complex Genetics of Radial Ray Deficiencies: Screening of a Cohort of 54 Patients », Genetics in Medicine, vol.15, issue.3, pp.195-202, 2013.

J. B. Verheij, S. A. De-munnik, T. Dijkhuizen, N. De-leeuw, D. Weghuis et al., « An 8.35 Mb Overlapping Interstitial Deletion of 8q24 in Two Patients with Coloboma, Congenital Heart Defect, Limb Abnormalities, Psychomotor Retardation and Convulsions, European Journal of Medical Genetics, vol.52, issue.5, pp.353-57, 2009.

C. Villanueva, E. Jacobson-dickman, C. Xu, S. Manouvrier, A. A. Dwyer et al., Congenital Hypogonadotropic Hypogonadism with Split Hand/Foot Malformation: A Clinical Entity with a High Frequency of FGFR1 Mutations, vol.17, pp.651-59, 2015.

A. Vogel, C. Rodriguez, W. Warnken, and J. C. Izpisúa-belmonte, « Dorsal Cell Fate Specified by Chick Lmx1 during Vertebrate Limb Development », Nature, vol.378, issue.6558, pp.716-736, 1995.


B. Wang, B. Xu, Z. Cheng, X. Zhou, J. Wang et al., « A Novel Non-Synonymous Mutation in the Homeodomain of HOXD13 Causes Synpolydactyly in a Chinese Family ». Clinica Chimica Acta, International Journal of Clinical Chemistry, vol.413, pp.1049-52, 2012.

C. C. Wang, C. David, P. Chan, and . Leder, The Mouseformin(Fmn) Gene: Genomic Structure, Novel Exons, and Genetic Mapping, vol.39, pp.303-314, 1997.

J. Wang, G. Gotway, J. M. Pascual, and J. Y. Park, « Diagnostic Yield of Clinical Next-Generation Sequencing Panels for Epilepsy, JAMA Neurology, vol.71, issue.5, pp.650-51, 2014.

Z. Wang, G. Qin, E. Ting, and C. Zhao, « HDAC4: Mechanism of Regulation and Biological Functions, Epigenomics, vol.6, issue.1, pp.139-50, 2014.

M. Warren, W. Wang, S. Spiden, D. Chen-murchie, D. Tannahill et al., « A Sall4 Mutant Mouse Model Useful for Studying the Role of Sall4 in Early Embryonic Development and Organogenesis, Genesis, vol.45, issue.1, pp.51-58, 2000.

J. D. Watson and F. H. Crick, « The Structure of DNA, Cold Spring Harbor Symposia on Quantitative Biology, vol.18, pp.123-154, 1953.

A. O. Wilkie and M. , Why Study Human Limb Malformations? BlackwellScience,Ltd, p.9, 2003.

S. R. Williams, A. Micheala, . Aldred, M. Vazken, F. Der-kaloustian et al., « Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, American Journal of Human Genetics, vol.87, issue.2, pp.219-247, 2010.

. Wooderchak-donahue, C. Whitney, T. Vansant-webb, P. Tvrdik, T. Plant et al., « Clinical Utility of a next Generation Sequencing Panel Assay for Marfan and Marfan-like Syndromes Featuring Aortopathy, American Journal of Medical Genetics. Part A, vol.167, issue.8, pp.1747-57, 2015.

A. Wynshaw-boris, G. Ryan, C. X. Deng, D. C. Chan, L. Jackson-grusby et al., « The Role of a Single Formin Isoform in the Limb and Renal Phenotypes of Limb Deformity, Molecular Medicine, vol.3, issue.6, pp.372-84, 1997.

Y. Xiang, L. Jiang, B. Wang, Y. Xu, H. Cai et al., Mutational Screening of GLI3, SHH, PreZRS, and ZRS in 102 Chinese Children with Nonsyndromic Polydactyly, vol.246, pp.392-402, 2017.

X. Xu, M. Weinstein, C. Li, M. Naski, R. I. Cohen et al., « Fibroblast Growth Factor Receptor 2 (FGFR2)-Mediated Reciprocal Regulation Loop between FGF8 and FGF10 Is Essential for Limb Induction, Development, vol.125, issue.4, pp.753-65, 1998.

K. Yamoto, H. Saitsu, G. Nishimura, R. Kosaki, S. Takayama et al., « Comprehensive Clinical and Molecular Studies in Split-Hand/Foot Malformation: Identification of Two Plausible Candidate Genes (LRP6 and UBA2), European Journal of Human Genetics: EJHG, 2019.

X. Yan, J. Lin, Y. Wang, J. Xuan, P. Yu et al., « A Novel Small Deletion of LMX1B in a Large Chinese Family with Nail-Patella Syndrome, BMC Medical Genetics, vol.20, issue.1, p.71, 2019.

A. Yang, R. Schweitzer, D. Sun, M. Kaghad, N. Walker et al., « P63 Is Essential for Regenerative Proliferation in Limb, Craniofacial and Epithelial Development », Nature, vol.398, issue.6729, pp.714-732, 1999.

S. Yohe, A. Hauge, K. Bunjer, T. Kemmer, M. Bower et al., « Clinical Validation of Targeted Next-Generation Sequencing for Inherited Disorders, Archives of Pathology & Laboratory Medicine, vol.139, issue.2, pp.204-214, 2015.


J. Zákány, M. Kmita, P. Alarcon, J. L. De-la-pompa, and E. D. Duboule, « Localized and Transient Transcription of Hox Genes Suggests a Link between Patterning and the Segmentation Clock, Cell, vol.106, issue.2, pp.207-224, 2001.

R. Zeller, J. López-ríos, A. Et, and . Zuniga, « Vertebrate Limb Bud Development: Moving towards Integrative Analysis of Organogenesis », Nature Reviews. Genetics, vol.10, issue.12, pp.845-58, 2009.

F. Zhang, W. Gu, M. E. Hurles, and J. R. Lupski, « Copy Number Variation in Human Health, Disease, and Evolution, Annual Review of Genomics and Human Genetics, vol.10, issue.1, pp.451-81, 2009.

J. Zhang, P. Barbaro, Y. Guo, A. Alodaib, J. Li et al., « Utility of Next-Generation Sequencing Technologies for the Efficient Genetic Resolution of Haematological Disorders, Clinical Genetics, 2015.

M. Zhao, L. Hou, H. Teng, J. Li, J. Wang et al., « Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency, BioMed Research International, vol.2019, pp.1-7, 2019.

F. Zhou, P. Leder, A. Zuniga, and M. Dettenhofer, « Formin1 Disruption Confers Oligodactylism and Alters Bmp Signaling, Human Molecular Genetics, vol.18, issue.13, pp.2472-82, 2009.

N. Zhou, L. Tang, Y. Jiang, S. Qin, J. Cui et al., Cuizhen Pan, et Xianhong Shu. 2019. « Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance, Anatolian Journal of Cardiology, vol.21, issue.1, pp.18-24

A. Zuniga, R. Zeller, S. Et, and . Probst, « The Molecular Basis of Human Congenital Limb Malformations, Wiley Interdisciplinary Reviews. Developmental Biology, vol.1, issue.6, pp.803-825, 2012.