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Article

Clinical findings in patients with GLI2 mutations--phenotypic variability.

Clinical genetics - 1 Jan 2012

Bertolacini C D P, Ribeiro-Bicudo L A, Petrin A, Richieri-Costa A, Murray J C

Abstract excerpt

Mutations in the human GLI2 gene were first reported in association with defective anterior pituitary formation, panhypopituitarism, and forebrain anomalies represented by typical holoprosencephaly (HPE) and holoprosencephaly-like (HPE-L) phenotypes and postaxial polydactyly. Subsequently, anophthalmia plus orbital anomalies, heminasal aplasia, branchial arch anomalies and polydactyly have also been incorporated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21204792
DOI: 10.1111/j.1399-0004.2010.01606.x
PMCID: PMC3135662

Genes

GLI2

Provenance

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