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Article

Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan.

Genetic testing - 1 Jan 2002

Shi Yi-Ru, Wu Jer-Yuarn, Hsu Yu-An, Lee Cheng-Chun, Tsai Chang-Hai, Tsai Fuu-Jen

Abstract excerpt

Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by growth of benign bone tumors. This genetically heterozygous disease comprises three chromosomal loci: the EXT1 gene on chromosome 8q23-q24, EXT2 on 11p11-p13, and EXT3 on 19p. Both EXT1 and EXT2 have been cloned and defined as a new family of potential tumor suppressor genes in previous work. However, no studies have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12490068
DOI: 10.1089/109065702761403441

Genes

EXT1
EXT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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