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Article

Tibial hemimelia associated with GLI3 truncation.

Journal of human genetics - 1 May 2016

Deimling Steven, Sotiropoulos Chris, Lau Kimberly, Chaudhry Sonia, Sturgeon Kendra, Kelley Simon, Narayanan Unni, Howard Andrew, Hui Chi-Chung, Hopyan Sevan

Abstract excerpt

Tibial hemimelia is a rare, debilitating and often sporadic congenital deficiency. In syndromic cases, mutations of a Sonic hedgehog (SHH) enhancer have been identified. Here we describe an ~5 kb deletion within the SHH repressor GLI3 in two patients with bilateral tibial hemimelia. This deletion results in a truncated GLI3 protein that lacks a DNA-binding domain and cannot repress hedgehog signaling. These...

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Source

Identifiers

PMID: 26791356
DOI: 10.1038/jhg.2015.161

Genes

GLI3
SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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