J. Kim, M. Kato, and P. Beachy, Gli2 trafficking links Hedgehog-dependent activation of Smoothened in the primary cilium to transcriptional activation in the nucleus, Proceedings of the National Academy of Sciences, vol.106, issue.51
DOI : 10.1073/pnas.0912180106

L. Buttitta, R. Mo, C. Hui, and C. Fan, Interplays of Gli2 and Gli3 and their requirement in mediating Shh-dependent sclerotome induction. Development, pp.6233-6276, 2003.

E. Villavicencio, D. Walterhouse, and P. Iannaccone, The Sonic Hedgehog???Patched???Gli Pathway in Human Development and Disease, The American Journal of Human Genetics, vol.67, issue.5, pp.1047-54, 2000.
DOI : 10.1016/S0002-9297(07)62934-6

C. Tickle, Making digit patterns in the vertebrate limb, Nature Reviews Molecular Cell Biology, vol.289, issue.1, 2006.
DOI : 10.1038/nrm1830

W. Lam, J. Kirk, N. Manning, W. Reardon, R. Kelley et al., Decreased cholesterol synthesis as a possible aetiological factor in malformations of Trisomy 18, European Journal of Medical Genetics, vol.49, issue.2
DOI : 10.1016/j.ejmg.2005.05.011

P. Beachy, A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis, Nat Genet, vol.33, issue.4, pp.508-521, 2003.

A. Cereda and J. Carey, The trisomy 18 syndrome, Orphanet Journal of Rare Diseases, vol.7, issue.1, pp.81-91, 2012.
DOI : 10.1097/ANC.0b013e3181cbf54e

F. Porter, Human malformation syndromes due to inborn errors of cholesterol synthesis, Current Opinion in Pediatrics, vol.15, issue.6
DOI : 10.1097/00008480-200312000-00011

E. Schoen, C. Norem, O. Keefe, J. Krieger, R. Walton et al., Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions, Obstet Gynecol, vol.102, pp.167-72, 2003.

N. Leporrier, M. Herrou, M. Herlicoviez, and P. Leymarie, The usefulness of hCG and unconjugated oestriol in prenatal diagnosis of trisomy 18, BJOG: An International Journal of Obstetrics and Gynaecology, vol.14, issue.4, 1996.
DOI : 10.1111/j.1471-0528.1996.tb09738.x

M. Shinawi, S. Szabo, E. Popek, C. Wassif, F. Porter et al., Recognition of

L. Kratz and R. Kelley, Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome, Am J

G. Tint, G. Salen, A. Batta, S. Shefer, M. Irons et al., Severity and outcome correlate with plasma sterol levels in type I and type II variants of the

R. Kelley and R. Hennekam, The Smith-Lemli-Opitz syndrome, Journal of Medical Genetics, vol.37, issue.5, 2000.
DOI : 10.1136/jmg.37.5.321

W. Gaoua, C. Wolf, C. F. Ilien, F. Roux, and C. , Cholesterol deficit but not accumulation of aberrant sterols is the major cause of the teratogenic activity in the Smith-Lemli-Opitz syndrome animal model, J Lipid Res, vol.41, issue.4, pp.637-683, 2000.

R. Kelley, M. Krajewska-walasek, and G. Utermann, Maternal apo E genotype is a modifier of the Smith-lemli-Opitz syndrome, J Med Genet, vol.41, issue.8, pp.577-84, 2004.

M. Bidet, O. Joubert, B. Lacombe, M. Ciantar, R. Nehmé et al., The Hedgehog Receptor Patched Is Involved in Cholesterol Transport, PLoS ONE, vol.10, issue.9, p.23834, 2011.
DOI : 10.1371/journal.pone.0023834.s003
URL : https://hal.archives-ouvertes.fr/hal-00637248

S. Odent, T. Attié-bitach, M. Blayau, M. Mathieu, J. Augé et al., Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly, Human Molecular Genetics, vol.8, issue.9, pp.1683-1692, 1999.
DOI : 10.1093/hmg/8.9.1683

A. Gallet, L. Ruel, L. Staccini-lavenant, and P. Therond, Cholesterol modification is necessary for controlled planar long-range activity of Hedgehog in Drosophila epithelia, Development, vol.133, issue.3, pp.407-418, 2006.
DOI : 10.1242/dev.02212
URL : https://hal.archives-ouvertes.fr/hal-00322327

A. Callejo, C. Torroja, L. Quijada, and I. Guerrero, Hedgehog lipid modifications are required for Hedgehog stabilization in the extracellular matrix, Development, vol.133, issue.3, pp.471-83, 2006.
DOI : 10.1242/dev.02217

R. Dawber, S. Hebbes, B. Herpers, F. Docquier, and M. Van-den-heuvel, Differential range and activity of various forms of the Hedgehog protein, BMC Developmental Biology, vol.5, issue.1, p.21, 2005.
DOI : 10.1186/1471-213X-5-21

F. Gofflot, W. Gaoua, L. Bourguignon, C. Roux, and J. Picard, Expression of sonic hedgehog downstream genes is modified in rat embryos exposed in utero to a distal inhibitor of cholesterol biosynthesis, Developmental Dynamics, vol.95, issue.2, pp.99-111, 2001.
DOI : 10.1002/1097-0177(2000)9999:9999<::AID-DVDY1092>3.0.CO;2-G

J. , R. Do, P. Farndon, H. Johansen-berg, D. Gerrelli et al., Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and Hedgehog signaling pathways, Am J Hum Genet, vol.82, pp.304-319, 2008.

F. Gofflot, C. Hars, F. Ilien, C. F. Wolf, C. Picard et al., Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling, Human Molecular Genetics, vol.12, issue.10, pp.1187-98, 2003.
DOI : 10.1093/hmg/ddg129

P. Pungchanchaikul, A. Bloch-zupan, and P. Ferretti, Delayed Osteoprogenitor Differentiation in Cleft-Palate Models, Cells Tissues Organs, vol.192, issue.5, pp.283-91, 2010.
DOI : 10.1159/000318643