Z. A. Bhuiyan, M. Klein, P. Hammond, A. Van-haeringen, M. M. Mannens et al., Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience, Journal of Medical Genetics, vol.43, issue.7, pp.568-575038240, 2005.
DOI : 10.1136/jmg.2005.038240

D. Braunholz, C. Obieglo, I. Parenti, J. Pozojevic, J. Eckhold et al., Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics, Human Mutation, vol.3, issue.1, pp.26-29, 2015.
DOI : 10.1038/nrg906

P. Castronovo, A. Delahaye-duriez, C. Gervasini, J. Azzollini, F. Minier et al., Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?, Clinical Genetics, vol.30, issue.6, pp.560-564, 2010.
DOI : 10.1111/j.1399-0004.2010.01408.x

M. A. Deardorff, M. Kaur, D. Yaeger, A. Rampuria, S. Korolev et al., Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation, The American Journal of Human Genetics, vol.80, issue.3, pp.485-49410, 1086.
DOI : 10.1086/511888

M. A. Deardorff, M. Bando, R. Nakato, E. Watrin, T. Itoh et al., HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle, HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle, pp.313-31710, 1038.
DOI : 10.1186/gb-2010-11-3-r25

URL : https://hal.archives-ouvertes.fr/inserm-00728375

M. A. Deardorff, J. J. Wilde, M. Albrecht, E. Dickinson, S. Tennstedt et al., RAD21 Mutations Cause a Human Cohesinopathy, The American Journal of Human Genetics, vol.90, issue.6, pp.1014-1027, 2012.
DOI : 10.1016/j.ajhg.2012.04.019

URL : https://doi.org/10.1016/j.ajhg.2012.04.019

D. Dorsett and L. Ström, The Ancient and Evolving Roles of Cohesin in Gene Expression and DNA Repair, Current Biology, vol.22, issue.7, 2012.
DOI : 10.1016/j.cub.2012.02.046

D. Freed, E. L. Stevens, and J. Pevsner, Somatic Mosaicism in the Human Genome, Genes, vol.46, issue.4, pp.1064-109410, 2014.
DOI : 10.1056/NEJMoa1307491

C. Gervasini, I. Parenti, C. Picinelli, J. Azzollini, M. Masciadri et al., Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype, European Journal of Medical Genetics, vol.56, issue.3, pp.138-143, 2013.
DOI : 10.1016/j.ejmg.2012.12.009

M. C. Gil-rodríguez, M. A. Deardorff, M. Ansari, C. A. Tan, I. Parenti et al.,

A. C. Manuscript, , p.12

K. A. Wilson, L. Zhang, J. Gómez-puertas, P. Casale, C. H. Ström et al., De novo heterozygous mutations in SMC3 cause a range of cornelia de lange syndrome-overlapping phenotypes, Hum. Mutat, vol.36, pp.454-462, 2015.

K. Hirschhorn, W. H. Decker, and H. L. Cooper, Human Intersex with Chromosome Mosaicism of Type XY/XO, New England Journal of Medicine, vol.263, issue.21, pp.1044-1048, 1960.
DOI : 10.1056/NEJM196011242632102

N. Hoppman-chaney, J. S. Jang, J. Jen, D. Babovic-vuksanovic, and J. C. Hodge, In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome, American Journal of Medical Genetics Part A, vol.152, issue.1, pp.193-198, 2012.
DOI : 10.1002/ajmg.a.33348

S. A. Huisman, E. J. Redeker, S. M. Maas, M. M. Mannens, and R. C. Hennekam, High rate of mosaicism in individuals with Cornelia de Lange syndrome, Journal of Medical Genetics, vol.50, issue.5, pp.339-344, 2013.
DOI : 10.1136/jmedgenet-2012-101477

K. Izumi, R. Nakato, Z. Zhang, A. C. Edmondson, S. Noon et al., Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin, Nature Genetics, vol.339, issue.4, pp.338-344, 2015.
DOI : 10.1126/science.1232033

F. J. Kaiser, M. Ansari, D. Braunholz, M. C. Gil-rodríguez, C. Decroos et al., Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance, Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance, pp.2888-2900, 2014.
DOI : 10.1086/507565

A. D. Kline, I. D. Krantz, A. Sommer, M. Kliewer, L. G. Jackson et al., Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance, American Journal of Medical Genetics Part A, vol.18, issue.12, 2007.
DOI : 10.1001/archotol.1990.01870090060008

I. D. Krantz, J. Mccallum, C. Descipio, M. Kaur, L. A. Gillis et al., Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B, Nature Genetics, vol.274, issue.Suppl., pp.631-63510, 1038.
DOI : 10.1074/jbc.274.27.19254

N. S. Macklon, J. P. Geraedts, and B. C. Fauser, Conception to ongoing pregnancy: the 'black box' of early pregnancy loss, Human Reproduction Update, vol.8, issue.4, pp.333-343, 2002.
DOI : 10.1093/humupd/8.4.333

L. Mannini, F. Cucco, V. Quarantotti, I. D. Krantz, and A. Musio, Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome, Human Mutation, vol.31, issue.12, pp.1589-1596, 2013.
DOI : 10.1016/j.molcel.2008.06.006

M. Merkenschlager, Cohesin: a global player in chromosome biology with local ties to gene regulation, Current Opinion in Genetics & Development, vol.20, issue.5, 2010.
DOI : 10.1016/j.gde.2010.05.007

A. Musio, A. Selicorni, M. L. Focarelli, C. Gervasini, D. Milani et al., X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations, Nature Genetics, vol.16, issue.5, pp.528-53010, 1038.
DOI : 10.1093/hmg/4.2.251

D. Niu, J. Huang, H. Li, K. Liu, S. Wang et al., Paternal gonadal mosaicism ofNIPBL mutation in a father of siblings with Cornelia de Lange syndrome, Prenatal Diagnosis, vol.102, issue.103, pp.1054-1057, 2006.
DOI : 10.1002/ajmg.a.30637

I. Parenti, C. Gervasini, J. Pozojevic, L. Graul-neumann, J. Azzollini et al., in two patients with Cornelia de Lange-overlapping phenotype, Clinical Genetics, vol.161, issue.4, pp.74-81, 2016.
DOI : 10.1002/ajmg.a.35739

URL : https://hal.archives-ouvertes.fr/hal-01117251

I. Parenti, C. Gervasini, J. Pozojevic, K. S. Wendt, E. Watrin et al., -phenotype??? - implications for molecular diagnostics, counseling and risk prediction, Clinical Genetics, vol.51, issue.10, pp.564-573, 2016.
DOI : 10.1136/jmedgenet-2014-102573

I. Parenti, M. E. Teresa-rodrigo, J. Pozojevic, R. Gil, S. Bader et al., Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes, Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes, pp.307-32010, 1007.
DOI : 10.1172/JCI77435

URL : https://hal.archives-ouvertes.fr/hal-01478812

H. W. Payne and W. K. Maeda, The Cornelia de Lange syndrome: clinical and cytogenetic interpretations, Can Med Assoc J, vol.93, pp.577-586, 1965.

T. P. Slavin, N. Lazebnik, D. M. Clark, J. Vengoechea, L. Cohen et al., Germline mosaicism in Cornelia de Lange syndrome, American Journal of Medical Genetics Part A, vol.36, issue.6, pp.1481-1485, 2012.
DOI : 10.1038/ng1363

URL : http://europepmc.org/articles/pmc3356507?pdf=render

N. B. Spinner and L. K. Conlin, Mosaicism and clinical genetics, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.102, issue.4, pp.397-405, 2014.
DOI : 10.1007/s004390050708

E. T. Tonkin, T. Wang, S. Lisgo, M. J. Bamshad, and T. Strachan, NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome, Nature Genetics, vol.34, issue.6, pp.636-64110, 1038.
DOI : 10.1136/jmg.34.8.645

E. Watrin and J. Peters, The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells, The EMBO Journal, vol.4, issue.17, pp.2625-2635202, 2009.
DOI : 10.1101/gad.970702

URL : https://hal.archives-ouvertes.fr/inserm-00406182

J. Weichert, A. Schröer, D. A. Beyer, G. Gillessen-kaesbach, and I. M. Stefanova, Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due, 2011.
DOI : 10.3109/14767058.2010.531312

A. C. Manuscript, , p.14

, to rare gonadal mosaicism of NIPBL gene mutation, J. Matern. Fetal. Neonatal Med, vol.24, pp.978-82

S. A. Woods, H. B. Robinson, L. J. Kohler, D. Agamanolis, G. Sterbenz et al., frame shift mutation in a patient with features that overlap cornelia de lange syndrome, American Journal of Medical Genetics Part A, vol.15, issue.1, pp.251-258, 2014.
DOI : 10.1038/sj.ejhg.5201791

H. Youssoufian and R. E. Pyeritz, Mechanisms and consequences of somatic mosaicism in humans, Nature Reviews Genetics, vol.99, issue.10, pp.748-758, 2002.
DOI : 10.1182/blood.V99.10.3801

B. Yuan, D. Pehlivan, E. Karaca, N. Patel, W. L. Charng et al., Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes, Journal of Clinical Investigation, vol.125, issue.2, pp.636-65110, 1172.
DOI : 10.1172/JCI77435DS1