Abstract:Responsible gene for Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome (PHS), Postaxial polydactyly type-A (PAP-A), and Preaxial polydactyly type-IV (PPD-IV) has been known to be GLI3. In the present review, relationship between mutation points of GLI3 and resulting phenotypes is discussed. It has been proposed that mutations in the upstream or within zinc finger domain of GLI3 gene induce GCPS, those in the post zinc finger region including protease cleavage site induce PHS, and those in fa… Show more
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