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Article

Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome.

Clinical dysmorphology - 1 Jul 2015

Tanteles George A, Michaelidou Sofia, Loukianou Eleni, Christophidou-Anastasiadou Violetta, Kleopa Kleopas A

Abstract excerpt

Greig cephalopolysyndactyly syndrome (GCPS) is typically characterized by preaxial or mixed preaxial and postaxial polydactyly with or without syndactyly and craniofacial features including hypertelorism and macrocephaly. Although GLI3 shows considerable pleiotropy, it is the only gene known to cause this particular phenotype. We report on a patient with GCPS caused by a novel GLI3 mutation. In addition, the...

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Identifiers

PMID: 25714367
DOI: 10.1097/MCD.0000000000000074

Genes

GLI3

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