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Article

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.

American journal of medical genetics. Part A - 1 Dec 2017

Crapster J Aaron, Hudgins Louanne, Chen James K, Gomez-Ospina Natalia

Abstract excerpt

Mutations in GLI3, which encodes a transcription factor of the Hedgehog signaling pathway, cause several developmental anomalies linked to inappropriate tissue patterning. Here, we report a novel missense variant in the fifth zinc finger domain of GLI3 (c.1826G>A; p.(Cys609Tyr)) initially identified in a proband with preaxial polydactyly type IV, developmental delay, sensorineural hearing loss, skeletal, and...

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Source

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Identifiers

PMID: 28884880
DOI: 10.1002/ajmg.a.38415
PMCID: PMC5685880

Genes

GLI3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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