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Article

Mutation screening of EXT genes in Chinese patients with multiple osteochondromas.

Gene - 15 Sept 2012

Kang Zuming, Peng Fenglan, Ling Tianyou

Abstract excerpt

Multiple osteochondromas (MO), a dominantly inherited genetic disorder, is characterized by the presence of multiple osteochondromas in the long bones. EXT1 and EXT2 are the causative genes in most MO patients. We have characterized 9 MO families and 1 sporadic case involving a total of 25 patients. The coding exons of EXT1 and EXT2 were screened in 10 probands affected with MO. In five of the 10 probands novel...

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Source

Identifiers

PMID: 22820392
DOI: 10.1016/j.gene.2012.07.006

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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