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A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

BACKGROUND: Polydactyly is a highly common congenital limb defect. Extra digits may appear as an isolated anomaly or as a part of a syndrome. Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, Pallister-Hall syndrome and non-syndromic polydactyly. Genotype-phenotype correlation...

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Pubblicato in:BMC Med Genet
Autori principali: Volodarsky, Michael, Langer, Yshaia, Birk, Ohad S
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4256830/
https://ncbi.nlm.nih.gov/pubmed/25267529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0110-9
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