. Sources-omim,

A. Vortkamp, T. Franz, M. Gessler, and K. H. Grzeschik, Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt), Mamm Genome Off J Int Mamm Genome Soc, vol.3, pp.461-463, 1992.

S. Kang, M. Rosenberg, V. D. Ko, and L. G. Biesecker, Gene structure and allelic expression assay of the human GLI3 gene, Hum Genet, vol.101, pp.154-157, 1997.

J. G. Hall, P. D. Pallister, and S. K. Clarren, Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly-a new syndrome? Part I: clinical, causal, and pathogenetic considerations, Am J Med Genet, vol.7, pp.47-74, 1980.

S. K. Clarren, A. Jr, E. C. Hall, and J. G. , ):hypopituitarism, imperforate anus, and postaxial polydactyly-a new syndrome? Part II: neuropathological considerations, Congenital hypothalamic hamartoblastoma, vol.68, pp.75-83, 1980.

L. Biesecker and J. Johnston, Syndromic and non-syndromic GLI3 phenotypes, Clin Genet, vol.68, pp.284-284, 2005.

L. G. Biesecker, The Greig cephalopolysyndactyly syndrome, Orphanet J Rare Dis, vol.3, p.10, 2008.

J. J. Johnston, R. L. Walker, and S. Davis, Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes, J Med Genet, vol.44, p.59, 2007.

P. Aza-blanc, H. Y. Lin, A. Ruiz-i-altaba, and T. B. Kornberg, Expression of the vertebrate Gli proteins in Drosophila reveals a distribution of activator and repressor activities, Development, vol.127, pp.4293-4301, 2000.

J. J. Johnston, I. Olivos-glander, and C. Killoran, Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations, Am J Hum Genet, vol.76, pp.609-622, 2005.

J. J. Johnston, J. C. Sapp, and J. T. Turner, Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations, Hum Mutat, vol.31, pp.1142-1154, 2010.

M. Kalff-suske, A. Wild, and J. Topp, Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome, Hum Mol Genet, vol.8, pp.1769-1777, 1999.

D. Furniss, P. Critchley, H. Giele, and A. Wilkie, Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3, Am J Med Genet A, vol.143, pp.3150-3160, 2007.

S. H. Shin, P. Kogerman, E. Lindström, R. Toftgárd, and L. G. Biesecker, GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization, Proc Natl Acad Sci, vol.96, pp.2880-2884, 1999.

S. Krauss, J. So, and M. Hambrock, Point mutations in GLI3 lead to misregulation of its subcellular localization, PLoS One, vol.4, p.7471, 2009.

M. Wildeman, E. Van-ophuizen, J. T. Den-dunnen, and P. Taschner, Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker, Hum Mutat, vol.29, pp.6-13, 2008.

. O'rahilly, R: Human embryo, Nature, vol.329, p.385, 1987.

C. Crosnier, T. Attié-bitach, and F. Encha-razavi, JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome, Hepatology, vol.32, pp.574-581, 2000.

D. Ng, J. J. Johnston, and J. T. Turner, Gonadal mosaicism in severe Pallister-Hall syndrome, Am J Med Genet A, vol.124, pp.296-302, 2004.

P. Debeer, H. Peeters, and S. Driess, Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations, Am J Med Genet A, vol.120, pp.49-58, 2003.

D. Furniss, S. Kan, and I. B. Taylor, Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery, J Med Genet, vol.46, pp.730-735, 2009.
URL : https://hal.archives-ouvertes.fr/hal-00552690

J. A. Hurst, D. Jenkins, and P. C. Vasudevan, Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3, Eur J Hum Genet, vol.19, pp.757-762, 2011.
URL : https://hal.archives-ouvertes.fr/hal-00614743

L. G. Biesecker, G. Jr, and J. M. , Pallister-Hall syndrome, J Med Genet, vol.33, pp.585-589, 1996.

A. Putoux, S. Nampoothiri, and N. Laurent, Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome, J Med Genet, vol.49, pp.713-720, 2012.

A. Putoux, S. Thomas, and K. Coene, KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes, Nat Genet, vol.43, pp.601-606, 2011.

E. Elson, R. Perveen, D. Donnai, S. Wall, and G. Black, De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models, J Med Genet, vol.39, pp.804-806, 2002.

L. Speksnijder, T. E. Cohen-overbeek, and . Knapen, A de novo GLI3 mutation in a patient with acrocallosal syndrome, Am J Med Genet A, vol.161, pp.1394-1400, 2013.

A. Verloes, A. David, L. Ngô, and A. Bottani, Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands, J Med Genet, vol.32, pp.605-611, 1995.

P. Hill and B. Wang, Rü ther U: The molecular basis of Pallister-Hall associated polydactyly, Hum Mol Genet, vol.16, pp.2089-2096, 2007.

F. Encha-razavi, J. C. Larroche, and J. Roume, Congenital hypothalamic hamartoma syndrome: nosological discussion and minimum diagnostic criteria of a possibly familial form, Am J Med Genet, vol.42, pp.44-50, 1992.

T. Roscioli, D. Kennedy, and J. Cui, Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation, Am J Med Genet A, vol.136, pp.390-394, 2005.

A. Poretti, G. Vitiello, and R. Hennekam, Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI, Orphanet J Rare Dis, vol.7, p.4, 2012.

M. Avila, N. Gigot, and B. Aral, GLI3 is rarely implicated in OFD syndromes with midline abnormalities, vol.32, pp.1332-1333, 2011.

C. Quélin, P. Loget, and A. Verloes, Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome, Eur J Med Genet, vol.55, pp.81-90, 2012.

J. M. Ruppert, B. Vogelstein, K. Arheden, and K. W. Kinzler, GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity, Mol Cell Biol, vol.10, pp.5408-5415, 1990.