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Article

Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 May 2006

Chen Wen-Chau, Chi Chih-Hsien, Chuang Chia-Chang, Jou I-Ming

Abstract excerpt

Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autosomal dominant disorder characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors (enchondromata). Three different exostosis (EXT) loci on chromosomes 8q (exostosin 1, EXT1), 11p (exostosin 2, EXT2) and 19p (exostosin 3, EXT3) have been reported....

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Source

Identifiers

PMID: 16638657
DOI: 10.1016/s0929-6646(09)60143-1

Genes

EXT2
EXT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.PMID 16638657Read ↗

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