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Article

Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations

17 Aug 2012

Abstract excerpt

Greig cephalopolysyndactyly syndrome (GCPS) and isolated preaxial polydactyly type IV (PPD-IV) are rare autosomal dominant disorders, both caused by mutations in the GLI3 gene. GCPS is mainly characterised by craniofacial abnormalities (macrocephaly/prominent forehead, hypertelorism) and limb malformations, such as PPD-IV, syndactyly and postaxial polydactyly type A or B (PAPA/B). Mutations in the GLI3 gene can...

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PMID: 22903559
DOI: 10.1007/s13353-012-0109-x

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