Article
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
American journal of human genetics - 1 Sept 1999
Radhakrishna U, Bornholdt D, Scott H S, Patel U C, Rossier C, Engel H, Bottani A, Chandal D, Blouin J L, Solanki J V, Grzeschik K H, Antonarakis S E
Abstract excerpt
Functional characterization of a gene often requires the discovery of the full spectrum of its associated phenotypes. Mutations in the human GLI3 gene have been identified in Greig cepalopolysyndactyly, Pallister-Hall syndrome (PHS), and postaxial polydactyly type-A (PAP-A). We studied the involvement of GLI3 in additional phenotypes of digital abnormalities in one family (UR003) with preaxial polydactyly type-IV...
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