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Article

Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.

Molecular medicine reports - 1 Oct 2017

Xu Yang, Kang Qinglin, Zhang Zhenlin

Abstract excerpt

The aim of the present study was to identify mutations of major causative genes in six unrelated Chinese families with multiple osteochondromas (MO). Radiographic examinations and genetic analyses were performed in 8 patients exhibiting typical features of MO. Analysis was also performed on unaffected members of the six families and 250 healthy volunteers. Radiographies of the patients revealed multiple exostoses...

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Source

Identifiers

PMID: 28849184
DOI: 10.3892/mmr.2017.7252

Genes

EXT2
EXT1

Variants

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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