P. Marcorelles and A. Laquerriere, Neuropathology of holoprosencephaly, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.70, issue.1, pp.109-128, 2010.
DOI : 10.1002/ajmg.c.30249

E. Matsunaga and K. Shiota, Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases, Teratology, vol.70, issue.3, pp.261-72, 1977.
DOI : 10.1002/tera.1420160304

I. Orioli and E. Castilla, Epidemiology of holoprosencephaly: Prevalence and risk factors, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.70, issue.1, pp.13-21, 2010.
DOI : 10.1002/ajmg.c.30233

W. Demyer, W. Zeman, and C. Palmer, The Face Predicts the Brain: Diagnostic Significance of Median Facial Anomalies for Holoprosencephaly (Arhinencephaly)

B. Solomon, F. Lacbawan, and S. Mercier, Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals, Journal of Medical Genetics, vol.47, issue.8, pp.513-537, 2009.
DOI : 10.1136/jmg.2009.073049

URL : https://hal.archives-ouvertes.fr/inserm-00439659

J. Hahn, P. Barnes, and N. Clegg, Septopreoptic Holoprosencephaly: A Mild Subtype Associated with Midline Craniofacial Anomalies, American Journal of Neuroradiology, vol.31, issue.9, pp.1596-601, 2010.
DOI : 10.3174/ajnr.A2123

A. Barkovich and D. Quint, Middle interhemispheric fusion: an unusual variant of holoprosencephaly, AJNR Am J Neuroradiol, vol.14, issue.2, pp.431-471, 1993.

L. Lazaro, C. Dubourg, and L. Pasquier, Phenotypic and molecular variability of the holoprosencephalic spectrum, American Journal of Medical Genetics Part A, vol.17, issue.2, pp.21-25, 2004.
DOI : 10.1002/ajmg.a.30110

E. Simon, R. Hevner, and J. Pinter, The middle interhemispheric variant of holoprosencephaly, AJNR Am J Neuroradiol, vol.23, issue.1, pp.151-157, 2002.

C. Bendavid, V. Dupe, and L. Rochard, Holoprosencephaly: An update on cytogenetic abnormalities, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.22, issue.1, pp.86-92, 2010.
DOI : 10.1002/ajmg.c.30250

URL : https://hal.archives-ouvertes.fr/inserm-00462057

D. Pineda-alvarez, C. Dubourg, and V. David, Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.30, issue.1, pp.93-101, 2010.
DOI : 10.1002/ajmg.c.30253

URL : https://hal.archives-ouvertes.fr/inserm-00462036

E. Roessler and M. Muenke, The molecular genetics of holoprosencephaly, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.129, issue.1, pp.52-61, 2010.
DOI : 10.1002/ajmg.c.30236

C. Johnson and S. Rasmussen, Non-genetic risk factors for holoprosencephaly, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.116, issue.1, pp.73-85, 2010.
DOI : 10.1002/ajmg.c.30242

E. Miller, S. Rasmussen, and A. Siega-riz, Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.116, issue.1, pp.62-72, 2010.
DOI : 10.1002/ajmg.c.30244

J. Ming and M. Muenke, Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly, The American Journal of Human Genetics, vol.71, issue.5, pp.1017-1049, 2002.
DOI : 10.1086/344412

URL : http://doi.org/10.1086/344412

S. Mercier, C. Dubourg, and M. Belleguic, Genetic counseling and ???molecular??? prenatal diagnosis of holoprosencephaly (HPE), American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.27, issue.1, pp.191-197, 2010.
DOI : 10.1002/ajmg.c.30246

URL : https://hal.archives-ouvertes.fr/inserm-00461987

C. Dubourg, L. Lazaro, and L. Pasquier, Molecular screening ofSHH,ZIC2,SIX3, andTGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations, Human Mutation, vol.97, issue.1, pp.43-51, 2004.
DOI : 10.1002/humu.20056

F. Lacbawan, B. Solomon, and E. Roessler, Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function, Journal of Medical Genetics, vol.46, issue.6, pp.389-98, 2009.
DOI : 10.1136/jmg.2008.063818

A. Paulussen, C. Schrander-stumpel, and D. Tserpelis, The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes, European Journal of Human Genetics, vol.140, issue.9, pp.999-1005, 2010.
DOI : 10.1002/pd.1385

URL : https://hal.archives-ouvertes.fr/hal-00544822

B. Solomon, S. Mercier, and J. Velez, Analysis of genotype-phenotype correlations in human holoprosencephaly, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.22, issue.1, pp.133-174, 2010.
DOI : 10.1002/ajmg.c.30240

URL : https://hal.archives-ouvertes.fr/inserm-00461997

S. Odent, L. Marec, B. Munnich, and A. , Segregation analysis in nonsyndromic holoprosencephaly, American Journal of Medical Genetics, vol.33, issue.2, pp.139-182, 1998.
DOI : 10.1002/(SICI)1096-8628(19980501)77:2<139::AID-AJMG6>3.0.CO;2-N

C. Bertolacini, L. Ribeiro-bicudo, and A. Petrin, Clinical findings in patients with GLI2 mutations - phenotypic variability, Clinical Genetics, vol.149, issue.1, 2010.
DOI : 10.1111/j.1399-0004.2010.01606.x

F. Rahimov, L. Ribeiro, and E. De-miranda, GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?, American Journal of Medical Genetics Part A, vol.14, issue.23, pp.2571-2577, 2006.
DOI : 10.1002/ajmg.a.31370

E. Roessler, Y. Du, and J. Mullor, Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features, Proceedings of the National Academy of Sciences, vol.100, issue.23
DOI : 10.1073/pnas.2235734100

C. Bendavid, L. Rochard, and C. Dubourg, Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci, Human Mutation, vol.68, issue.Spec No 1, pp.1175-82, 2009.
DOI : 10.1002/humu.21016

URL : https://hal.archives-ouvertes.fr/inserm-00404487

. Vienna, Austria: R Foundation for Statistical Computing, 2009.

E. Roessler, K. El-jaick, and C. Dubourg, gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis, Human Mutation, vol.30, issue.10, pp.921-956, 2009.
DOI : 10.1002/humu.21090

URL : https://hal.archives-ouvertes.fr/inserm-00406224

E. Roessler, F. Lacbawan, and C. Dubourg, gene in humans predicts loss-of-function as the predominant disease mechanism, Human Mutation, vol.30, issue.4, pp.541-54, 2009.
DOI : 10.1002/humu.20982

URL : https://hal.archives-ouvertes.fr/inserm-00365990

E. Traiffort, C. Dubourg, and H. Faure, Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly, Journal of Biological Chemistry, vol.279, issue.41, pp.42889-97, 2004.
DOI : 10.1074/jbc.M405161200

URL : https://hal.archives-ouvertes.fr/hal-00169857

U. Hehr, D. Pineda-alvarez, and G. Uyanik, Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly, Human Genetics, vol.33, issue.5, pp.555-61, 2010.
DOI : 10.1007/s00439-010-0797-4

L. Pasquier, C. Dubourg, and M. Blayau, A new mutation in the six-domain of SIX3 gene causes holoprosencephaly, European Journal of Human Genetics, vol.8, issue.10, pp.797-800, 2000.
DOI : 10.1038/sj.ejhg.5200540

L. Pasquier, C. Dubourg, and M. Gonzales, First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations, Journal of Medical Genetics, vol.42, issue.1, p.4, 2005.
DOI : 10.1136/jmg.2004.023416

C. Dubourg, V. David, and A. Gropman, Clinical utility gene card for: Holoprosencephaly, European Journal of Human Genetics, vol.19, issue.1, pp.118-138, 2010.
DOI : 10.1002/ajmg.c.30254

URL : https://hal.archives-ouvertes.fr/inserm-00511701

U. Hehr, C. Gross, and U. Diebold, Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation, European Journal of Pediatrics, vol.163, issue.7, pp.347-52, 2004.
DOI : 10.1007/s00431-004-1459-0

L. Pasquier, P. Marcorelles, and P. Loget, Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases, Acta Neuropathologica, vol.103, issue.2, pp.185-200, 2009.
DOI : 10.1007/s00401-008-0469-9

URL : https://hal.archives-ouvertes.fr/inserm-00353294

M. Ramocki, F. Scaglia, and P. Stankiewicz, Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2, American Journal of Medical Genetics Part A, vol.40, issue.7
DOI : 10.1002/ajmg.a.34029

J. Hahn and L. Plawner, Evaluation and management of children with holoprosencephaly, Pediatric Neurology, vol.31, issue.2, pp.79-88, 2004.
DOI : 10.1016/j.pediatrneurol.2004.03.006

K. Jellinger, H. Gross, and E. Kaltenback, 25 HOLOPROSENCEPHALY AND AGENESIS OF THE CORPUS CALLOSUM. FREQUENCY OF ASSOCIATED MALFORMATIONS, Journal of Neuropathology and Experimental Neurology, vol.40, issue.3, pp.1-10, 1981.
DOI : 10.1097/00005072-198105000-00032

M. Franca, A. Jorge, and L. Carvalho, Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly, The Journal of Clinical Endocrinology & Metabolism, vol.95, issue.11, pp.384-91, 2010.
DOI : 10.1210/jc.2010-1050

V. Dupé, L. Rochard, and S. Mercier, NOTCH, a new signaling pathway implicated in holoprosencephaly, Human Molecular Genetics, vol.20, issue.6, pp.1122-1153, 2011.
DOI : 10.1093/hmg/ddq556

J. Rosenfeld, B. Ballif, and D. Martin, Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE, Human Genetics, vol.10, issue.4, pp.421-461, 2010.
DOI : 10.1007/s00439-009-0778-7

F. Cole and R. Krauss, Microform Holoprosencephaly in Mice that Lack the Ig Superfamily Member Cdon, Current Biology, vol.13, issue.5, pp.411-416, 2003.
DOI : 10.1016/S0960-9822(03)00088-5

X. Geng, C. Speirs, and O. Lagutin, Haploinsufficiency of Six3 Fails to Activate Sonic hedgehog Expression in the Ventral Forebrain and Causes Holoprosencephaly, Developmental Cell, vol.15, issue.2, pp.236-283, 2008.
DOI : 10.1016/j.devcel.2008.07.003

W. Pei and B. Feldman, Identification of common and unique modifiers of zebrafish midline bifurcation and cyclopia, Developmental Biology, vol.326, issue.1, pp.201-212, 2009.
DOI : 10.1016/j.ydbio.2008.11.008

L. Nanni, J. Ming, and M. Bocian, The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly, Human Molecular Genetics, vol.8, issue.13, pp.2479-88, 1999.
DOI : 10.1093/hmg/8.13.2479

N. Wannasilp, B. Solomon, and N. Warren-mora, Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2, American Journal of Medical Genetics Part A, vol.106, issue.4, 2011.
DOI : 10.1002/ajmg.a.33903