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Point Mutations in Human GLI3 Cause Greig Syndrome

1 Oct 1997

Abstract excerpt

Greig cephalopolysyndactyly syndrome (GCPS, MIM 175700) is a rare autosomal dominant developmental disorder characterized by craniofacial abnormalities and post-axial and pre-axial polydactyly as well as syndactyly of hands and feet. Human GLI3, located on chromosome 7p13, is a candidate gene for the syndrome because it is interrupted by translocation breakpoints associated with GCPS. Since hemizygosity of 7p13...

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Identifiers

PMID: 9302279
DOI: 10.1093/hmg/6.11.1979

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