K. Morcel, L. Camborieux, and D. Guerrier, Mayer-Rokitansky-K??ster-Hauser (MRKH) syndrome, Orphanet Journal of Rare Diseases, vol.2, issue.1, p.13, 2007.
DOI : 10.1186/1750-1172-2-13
URL : http://doi.org/10.1186/1750-1172-2-13

J. Griffin, C. Edwards, J. Madden, M. Harrod, and J. Wilson, Congenital Absence of the Vagina, Annals of Internal Medicine, vol.85, issue.2, pp.224-236, 1976.
DOI : 10.7326/0003-4819-85-2-224

R. Varner, J. Younger, and R. Blackwell, Mullerian dysgenesis, J Reprod Med, vol.30, pp.443-450, 1985.

M. Folch, I. Pigem, and J. Konje, M??llerian Agenesis: Etiology, Diagnosis, and Management, Obstetrical & Gynecological Survey, vol.55, issue.10, pp.644-649, 2000.
DOI : 10.1097/00006254-200010000-00023

. Kuster-hauser, syndrome: distinction between two forms based on excretory urographic, sonographic, and laparoscopic findings, AJR Am J Roentgenol, vol.160, pp.331-334, 1993.

E. Strubbe, J. Lemmens, C. Thijn, W. Willemsen, and B. Van-toor, Spinal abnormalities and the atypical form of the Mayer-Rokitansky-K??ster-Hauser syndrome, Skeletal Radiology, vol.21, issue.7, pp.459-462, 1992.
DOI : 10.1007/BF00190992

S. Pittock, D. Babovic-vuksanovic, and A. Lteif, Mayer-Rokitansky-K??ster-Hauser anomaly and its associated malformations, American Journal of Medical Genetics Part A, vol.149, issue.3, pp.314-316, 2005.
DOI : 10.1002/ajmg.a.30721

K. Devriendt, P. Moerman, V. Schoubroeck, D. Vandenberghe, K. Fryns et al., Chromosome 22q11 deletion presenting as the Potter sequence., Journal of Medical Genetics, vol.34, issue.5, pp.423-425, 1997.
DOI : 10.1136/jmg.34.5.423

P. Baird and R. Lowry, Absent vagina and the Klippel-Feil anomaly, American Journal of Obstetrics and Gynecology, vol.118, issue.2, pp.290-291, 1974.
DOI : 10.1016/0002-9378(74)90565-1

G. Letterie and N. Vauss, Mullerian tract abnormalities and associated auditory defects

L. Gilliam and L. Shulman, Tetralogy of Fallot, Imperforate Anus, and M??llerian, Renal, and Cervical Spine (MURCS) Anomalies in a 15-Year-Old Girl, Journal of Pediatric and Adolescent Gynecology, vol.15, issue.4, pp.231-233, 2002.
DOI : 10.1016/S1083-3188(02)00161-4

M. Fakih, H. Williamson, E. Seymour, and S. Pai, Concurrence of the Holt-Oram syndrome and the Rokitansky-Kuster-Hauser syndrome. A case report, J Reprod Med, vol.32, pp.549-550, 1987.

S. Kula, A. Saygili, F. Tunaoglu, and R. Olgunturk, Mayer-Rokitansky-Kuster-Hauser syndrome associated with pulmonary stenosis, Acta Paediatr, vol.93, pp.570-572, 2004.

E. Wulfsberg and T. Grigbsy, Rokitansky sequence in association with the facio-auriculo-vertebral sequence: Part of a mesodermal malformation spectrum?, American Journal of Medical Genetics, vol.149, issue.1, pp.100-102, 1990.
DOI : 10.1002/ajmg.1320370123

Y. Van-bever, J. Van-den-ende, and A. Richieri-costa, Oculo-Auriculo-Vertebral complex and uncommon associated anomalies: Report on 8 unrelated Brazilian patients, American Journal of Medical Genetics, vol.149, issue.5, pp.683-690, 1992.
DOI : 10.1002/ajmg.1320440530

K. Pillay, L. Matthews, and H. Wainwright, Facio-Auriculo-Vertebral Sequence in Association with DiGeorge Sequence, Rokitansky Sequence, and Dandy-Walker Malformation: Case Report, Pediatric and Developmental Pathology, vol.6, issue.4, pp.355-360, 2003.
DOI : 10.1007/s10024-003-1124-z

E. Strubbe, C. Thijn, W. Willemsen, and R. Lappohn, Evaluation of Radiographic Abnormalities of the Hand in Patients with the Mayer-Rokitansky-K??ster-Hauser Syndrome, Obstetrical & Gynecological Survey, vol.43, issue.3, pp.227-231, 1987.
DOI : 10.1097/00006254-198803000-00016

C. Massafra, M. Bartolozzi, P. Bartolozzi, and L. Scillone, Rokitansky-K??ster-Hauser syndrome with ectrodactyly, Acta Obstetricia et Gynecologica Scandinavica, vol.67, issue.6, pp.557-560, 1988.
DOI : 10.3109/00016348809029870

A. Lopez, J. Fryns, and K. Devriendt, MURCS association with duplicated thumb, Clin Genet, vol.61, pp.308-309, 2002.

P. Duncan, L. Shapiro, J. Stangel, R. Klein, and J. Addonizio, The MURCS association: M??llerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia, The Journal of Pediatrics, vol.95, issue.3
DOI : 10.1016/S0022-3476(79)80514-4

J. Opitz, Vaginal atresia (von Mayer-Rokitansky-K??ster or MRK anomaly) in hereditary renal adysplasia (HRA), American Journal of Medical Genetics, vol.26, issue.4, pp.873-876, 1987.
DOI : 10.1002/ajmg.1320260414

C. Pavanello-rde, A. Eigier, and P. Otto, Relationship between Mayer-Rokitansky-K??ster (MRK) anomaly and hereditary renal adysplasia (HRA), American Journal of Medical Genetics, vol.149, issue.4, pp.845-849, 1988.
DOI : 10.1002/ajmg.1320290414

D. Guerrier, T. Mouchel, L. Pasquier, and I. Pellerin, The Mayer-Rokitansky-K??ster-Hauser syndrome (congenital absence of uterus and vagina) ??? phenotypic manifestations and genetic approaches, Journal of Negative Results in BioMedicine, vol.19, issue.1, p.1, 2006.
DOI : 10.1002/humu.9036

C. Gervasini, F. Grati, F. Lalatta, S. Tabano, B. Gentilin et al., SHOX duplications found in some cases with type I

E. Perez and K. Sullivan, Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes), Current Opinion in Pediatrics, vol.14, issue.6, pp.678-683, 2002.
DOI : 10.1097/00008480-200212000-00005

D. Mcdonald-mcginn, R. Kirschner, E. Goldmuntz, K. Sullivan, P. Eicher et al., The Philadelphia story: the 22q11.2 deletion: report on 250 patients, Genet Couns, vol.10, pp.11-24, 1999.

B. Hay, Deletion 22q11: Spectrum of Associated Disorders, Seminars in Pediatric Neurology, vol.14, issue.3, pp.136-139, 2007.
DOI : 10.1016/j.spen.2007.07.005

D. Driscoll, J. Salvin, B. Sellinger, M. Budarf, D. Mcdonald-mcginn et al., Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis., Journal of Medical Genetics, vol.30, issue.10, pp.813-817, 1993.
DOI : 10.1136/jmg.30.10.813

M. Beaujard, S. Chantot, M. Dubois, K. B. Carpentier, W. Mabboux et al., Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays, European Journal of Medical Genetics, vol.52, issue.5, pp.321-327, 2009.
DOI : 10.1016/j.ejmg.2009.05.010

C. Tsai, D. Van-dyke, and G. Feldman, Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype, American Journal of Medical Genetics, vol.14, issue.4, pp.336-339, 1999.
DOI : 10.1002/(SICI)1096-8628(19990212)82:4<336::AID-AJMG11>3.0.CO;2-I

L. Fernandez, P. Lapunzina, I. Pajares, M. Palomares, I. Martinez et al., Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion, American Journal of Medical Genetics Part A, vol.27, issue.9, pp.1134-1141, 2008.
DOI : 10.1002/ajmg.a.32256

K. Devriendt, D. Mars, K. , D. Cock, P. Gewillig et al., Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome

J. Mcgaughran, K. Brondum-nielsen, and P. Marynen, Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1, Am J Hum Genet, vol.64, pp.1119-1126, 1999.

G. Monaco, C. Pignata, E. Rossi, O. Mascellaro, S. Cocozza et al., DiGeorge anomaly associated with 10p deletion, American Journal of Medical Genetics, vol.2, issue.2, pp.215-216, 1991.
DOI : 10.1002/ajmg.1320390220

S. Schuffenhauer, H. Seidel, H. Oechsler, B. Belohradsky, U. Bernsau et al., DiGeorge syndrome and partial monosomy 10p: case report and review, Ann Genet, vol.38, pp.162-167, 1995.

S. Daw, C. Taylor, M. Kraman, K. Call, J. Mao et al., A common region of 10p deleted in DiGeorge and velocardiofacial syndromes, Nature Genetics, vol.247, issue.4, pp.458-460, 1996.
DOI : 10.1006/geno.1993.1339

H. Van-esch, P. Groenen, J. Fryns, W. Van-de-ven, and K. Devriendt, The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome, Genet Couns, vol.10, pp.59-65, 1999.

S. Yatsenko, A. Yatsenko, K. Szigeti, W. Craigen, P. Stankiewicz et al., Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome, Clinical Genetics, vol.239, issue.3, pp.128-136, 2004.
DOI : 10.1111/j.1399-0004.2004.00290.x

F. Greenberg, K. Courtney, R. Wessels, J. Huhta, R. Carpenter et al., Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly, American Journal of Medical Genetics, vol.67, issue.1, pp.1-4, 1988.
DOI : 10.1002/ajmg.1320310102

F. Greenberg, F. Elder, P. Haffner, H. Northrup, and D. Ledbetter, Cytogenetic findings in a prospective series of patients with DiGeorge anomaly, Am J Hum Genet, vol.43, pp.605-611, 1988.

I. Filho, Z. Filho, S. Kim, C. Bagnoli, V. Mendonca et al., Report of a del22q11 in a patient with Mayer-Rokitansky-Kuster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women, Am J Med Genet A, vol.140, pp.1339-1342, 2006.

J. Bodurtha, Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome

P. Papakostas and F. Rollo, Expanding the phenotype of 22q11 deletion syndrome: the MURCS association, Clin Dysmorphol, vol.17, pp.13-17, 2008.

V. David and S. Odent, Phenotypic variability of a 4q34-->qter inherited deletion

J. Moskovitz, N. Jenkins, D. Gilbert, N. Copeland, F. Jursky et al., Chromosomal localization of the mammalian peptide-methionine sulfoxide reductase gene and its differential expression in various tissues., Proceedings of the National Academy of Sciences, vol.93, issue.8, pp.3205-3208, 1996.
DOI : 10.1073/pnas.93.8.3205

S. Bowne, S. Daiger, K. Malone, J. Heckenlively, A. Kennan et al., Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene, Mol Vis, vol.9, pp.129-137, 2003.

J. Visvanathan, S. Lee, B. Lee, J. Lee, and S. Lee, The microRNA miR-124 antagonizes the anti-neural REST/SCP1 pathway during embryonic CNS development, Genes & Development, vol.21, issue.7, pp.744-749, 2007.
DOI : 10.1101/gad.1519107

S. Smith, I. Giriat, A. Schmitt, and . De-lange, Tankyrase, a Poly(ADP-Ribose) Polymerase at Human Telomeres, Science, vol.282, issue.5393, pp.1484-1487, 1998.
DOI : 10.1126/science.282.5393.1484
URL : http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.466.9024

G. Wolff, B. Zabel, I. Barisic, and A. Rauch, Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2), Eur J Hum Genet, vol.6, pp.213-225, 1998.

B. Harding, R. Beetz, R. Bilous, and I. Holdaway, GATA3 haplo-insufficiency causes human HDR syndrome, Nature, vol.406, pp.419-422, 2000.

P. Lichtner, R. Konig, T. Hasegawa, V. Esch, H. Meitinger et al., An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14, Journal of Medical Genetics, vol.37, issue.1, pp.33-37, 2000.
DOI : 10.1136/jmg.37.1.33

P. Lichtner, T. Attie-bitach, S. Schuffenhauer, J. Henwood, P. Bouvagnet et al., Expression and mutation analysis of BRUNOL3