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Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation, The American Journal of Human Genetics, vol.83, issue.5, pp.616-638, 2008. ,
Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice, Hum Mol Genet, vol.20, issue.20, pp.3943-52, 2011. ,
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly, European Journal of Human Genetics. juin, vol.20, issue.6, pp.705-713, 2012. ,
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes, American Journal of Medical Genetics Part A, vol.155, issue.8, pp.1906-1922, 2011. ,
PITX1 promotes chondrogenesis and myogenesis in mouse hindlimbs through conserved regulatory targets, Developmental Biology. 1 févr, vol.434, issue.1, pp.186-95, 2018. ,
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus, Am J Hum Genet, vol.91, issue.4, pp.629-664, 2012. ,
The Liebenberg syndrome: in depth analysis of the original family, J Hand Surg Eur, vol.39, issue.9, pp.919-944, 2014. ,
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome, J Med Genet. avr, vol.56, issue.4, pp.246-51, 2019. ,
A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome, American Journal of Medical Genetics Part A, vol.164, issue.11, pp.2958-60, 2014. ,
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis, Nat Genet. oct, vol.50, issue.10, pp.1463-73, 2018. ,
Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development, Genes Dev. 15 févr, vol.13, issue.4, pp.484-94, 1999. ,
Identification of a dominant negative homeodomain mutation in Rieger syndrome, J Biol Chem. 22 juin, vol.276, issue.25, pp.23034-23075, 2001. ,
Human syndromes with congenital patellar anomalies and the underlying gene defects, Clinical Genetics, vol.68, issue.4, pp.302-321, 2005. ,
The phenotype of survivors of campomelic dysplasia, J Med Genet. août, vol.39, issue.8, pp.597-602, 2002. ,
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome, Am J Med Genet A, vol.161, issue.10, pp.2528-2562, 2013. ,
Pierre Robin sequence: review of diagnostic and treatment challenges, Int J Pediatr Otorhinolaryngol. avr, vol.79, issue.4, pp.451-64, 2015. ,