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Article

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

Congenital anomalies - 1 Mar 2016

Patel Rashmi, Singh Chandra Bhan, Bhattacharya Visweswar, Singh Subodh Kumar, Ali Akhtar

Abstract excerpt

The GLI3 protein is a zinc finger transcription factor, expressed early in development. The GLI3 gene exhibits allelic heterogeneity as mutations in this gene are associated with several developmental syndromic and non-syndromic polydactyly. The present study reports two cases: first, a familial case of Greig Cephalopolysyndactyly Syndrome (GCPS); the second is a sporadic case with both postaxial polydactyly...

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Source

Identifiers

PMID: 26508445
DOI: 10.1111/cga.12139

Genes

GLI3

Variants

rs121917714

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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