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Article

Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.

Genetic testing and molecular biomarkers - 1 Dec 2010

Pei Yuanyuan, Wang Yiming, Huang Weijun, Hu Bin, Huang Dongsheng, Zhou Yan, Su Peiqiang

Abstract excerpt

Hereditary multiple exostoses (HME) is an autosomal dominantly inherited disorder characterized by multiple benign cartilage-capped exostoses. Clinical manifestation of the disease is heterogenous. Overriding toes, scoliosis, spinal cord compression, and brachydactyly caused by shortening of metatarsals are rare findings. EXT1 and EXT2 are the genes responsible in most HME patients. We have characterized 11 HME...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21039224
DOI: 10.1089/gtmb.2010.0040

Genes

EXT1
EXT2

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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Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.PMID 21039224Read ↗

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