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- W1832386845 abstract "The GLI3 protein is a zinc finger transcription factor, expressed early in development. The GLI3 gene exhibits allelic heterogeneity as mutations in this gene are associated with several developmental syndromic and non-syndromic polydactyly. The present study reports two cases: first, a familial case of Greig Cephalopolysyndactyly Syndrome (GCPS); the second is a sporadic case with both postaxial polydactyly (PAP) type A and B. Resequencing of GLI3 gene reveals a previously reported nonsense truncation mutation g.42007251G > A (p.R792X; rs121917714) in the GCPS family and a novel single nucleotide insertion g.42004239_42004240insA (p.E1478X) in the sporadic case of postaxial polydactyly (PAP). Both nonsense truncation mutations; p.R792X (GCPS) and p.E1478X (PAP) introduce a premature stop codon leading to loss of C-terminal domains." @default.
- W1832386845 created "2016-06-24" @default.
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- W1832386845 date "2016-03-01" @default.
- W1832386845 modified "2023-09-27" @default.
- W1832386845 title "<i>GLI</i><i>3</i>mutations in syndromic and non-syndromic polydactyly in two Indian families" @default.
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- W1832386845 doi "https://doi.org/10.1111/cga.12139" @default.
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