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Article

Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.

Molecular biology reports - 1 Apr 2009

Sfar Sana, Abid Abderrazak, Mahfoudh Wijden, Ouragini Houyem, Ouechtati Farah, Abdelhak Sonia, Chouchane Lotfi

Abstract excerpt

Hereditary multiple exostoses (HME) is an autosomal dominant orthopaedic disorder most frequently caused by mutations in the EXT1 gene. The aim of the present study is to determine the underlying molecular defect of HME in two multigenerational Tunisian families with 21 affected members and to ex...

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Source

Identifiers

PMID: 18330718
DOI: 10.1007/s11033-008-9226-3

Genes

EXT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18330718-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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