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Article

[A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Feb 2014

Wang Wei, Qiu Zheng-Qing, Song Hong-Mei

Abstract excerpt

OBJECTIVE: Hereditary multiple exostoses (HME) is an autosomal dominant monogenic disorder of paraplasia ossium. Mutations in EXT1 and EXT2 have been suggested to be responsible for over 70% of HME cases. This study aimed to analyze the clinical features and pathogenic mutations in a Chinese family with HME (6 patients in 24 members of 3 generations) and to review the relative literature regarding mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24568913

Genes

EXT1
EXT2

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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