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Article

Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.

Clinica chimica acta; international journal of clinical chemistry - 10 Jun 2014

Wang Zhigang, Wang Jian, Li Yuchan, Geng Juan, Fu Qihua, Xu Yunlan, Shen Yiping

Abstract excerpt

Polydactyly is a common congenital limb deformity. This anomaly may occur in isolation (non-syndromic) or as part of a syndrome. The glioma-associated oncogene family zinc finger 3 (GLI3) is known to be associated with both syndromic and non-syndromic polydactyly. GLI3 plays a predominant role in...

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Source

Identifiers

PMID: 24667698
DOI: 10.1016/j.cca.2014.03.012

Genes

GLI3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-24667698-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.PMID 24667698Read ↗

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Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactylySemantic proximity Read ↗

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.Semantic proximity Read ↗

A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.Semantic proximity Read ↗

Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.Semantic proximity Read ↗

A novel frameshift mutation GLI3c.1826delG in a Greig-cephalopolysyndactyly syndrome patient with nontypical preaxial polydactyly: A case reportSemantic proximity Read ↗

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Two Novel Frameshift Mutations in the GLI3 Gene Underlie Non-Syndromic Polydactyly in Chinese Families.Semantic proximity Read ↗

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.Semantic proximity Read ↗

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