P. Maulik, M. Mascarenhas, C. Mathers, T. Dua, and S. Saxena, Prevalence of intellectual disability: A meta-analysis of population-based studies, Research in Developmental Disabilities, vol.32, issue.2, pp.419-455, 2011.
DOI : 10.1016/j.ridd.2010.12.018

C. Bellanné-chantelot, S. Clauin, D. Chauveau, C. P. Daumont, M. Douillard et al., Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1?? (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5, Diabetes, vol.54, issue.11, pp.3126-3158, 2005.
DOI : 10.2337/diabetes.54.11.3126

C. Loirat, C. Bellanné-chantelot, I. Husson, G. Deschênes, V. Guigonis et al., Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion, Nephrology Dialysis Transplantation, vol.18, issue.10, pp.3430-3433, 2010.
DOI : 10.1038/ejhg.2009.174

F. Laffargue, S. Bourthoumieu, B. Llanas, V. Baudouin, A. Lahoche et al., Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome, Archives of Disease in Childhood, vol.20, issue.3, pp.259-64, 2015.
DOI : 10.1093/hmg/ddr243

R. Clissold, C. Shaw-smith, P. Turnpenny, B. Bunce, D. Bockenhauer et al., Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder, Kidney International, vol.90, issue.1, pp.203-214, 2016.
DOI : 10.1016/j.kint.2016.03.027

URL : https://doi.org/10.1016/j.kint.2016.03.027

K. Raile, E. Klopocki, M. Holder, T. Wessel, A. Galler et al., Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young, The Journal of Clinical Endocrinology & Metabolism, vol.94, issue.7, pp.2658-64, 2009.
DOI : 10.1210/jc.2008-2189

S. Nagamani, A. Erez, J. Shen, C. Li, E. Roeder et al., Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12, European Journal of Human Genetics, vol.18, issue.3, pp.278-84, 2010.
DOI : 10.1038/374425a0

A. Dixit, C. Patel, R. Harisson, J. Jarvis, S. Hulton et al., 17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum, American Journal of Medical Genetics Part A, vol.17, issue.9, pp.2317-2338, 2014.
DOI : 10.1681/ASN.2005101040

C. Cheroki, A. Krepischi-santos, K. Szuhai, V. Brenner, C. Kim et al., Genomic imbalances associated with mullerian aplasia, Journal of Medical Genetics, vol.45, issue.4, pp.228-260, 2008.
DOI : 10.1136/jmg.2007.051839

D. Moreno-de-luca, . Sgene-consortium, J. Mulle, S. Simplex-collection-genetics, . Consortium et al., Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia, The American Journal of Human Genetics, vol.87, issue.5, pp.618-648, 2010.
DOI : 10.1016/j.ajhg.2010.10.004

J. Roberts, S. Gandomi, M. Parra, I. Lu, C. Gau et al., Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features, Case Reports in Genetics, vol.538, pp.1-6, 2014.
DOI : 10.1126/scisignal.289pe59

P. Palumbo, V. Antona, O. Palumbo, R. Nardello, A. Fontana et al., Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case, Gene, vol.538, issue.2, pp.373-381, 2014.
DOI : 10.1016/j.gene.2014.01.050

C. Bingham, M. Bulman, S. Ellard, L. Allen, G. Lipkin et al., Mutations in the Hepatocyte Nuclear Factor-1?? Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease, The American Journal of Human Genetics, vol.68, issue.1, pp.219-243, 2001.
DOI : 10.1086/316945

N. Shihara, Y. Horikawa, T. Onishi, M. Ono, K. Kashimada et al., Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes, Diabetologia, vol.47, pp.1128-1137, 2004.

S. Faguer, S. Decramer, N. Chassaing, C. Bellanné-chantelot, P. Calvas et al., Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood, Kidney International, vol.80, issue.7, pp.768-76, 2011.
DOI : 10.1038/ki.2011.225

N. Makki and M. Capecchi, Identification of novel Hoxa1 downstream targets regulating hindbrain, neural crest and inner ear development, Developmental Biology, vol.357, issue.2, pp.295-304, 2011.
DOI : 10.1016/j.ydbio.2011.06.042