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Article

A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas.

Genetic testing and molecular biomarkers - 1 Apr 2019

Chen Zhonghua, Bi Qing, Kong Mingxiang, Chen Yu

Abstract excerpt

AIMS: Multiple exostoses (MO), also referred to as hereditary multiple exostoses (HME), is an autosomal dominant inherited skeletal disorder that has been found to be associated with mutations in the EXT1 and EXT2 genes. In the present study, we report a Chinese family with HME and our mutational analyses of the EXT1 and EXT2 genes in affected and unaffected individuals. METHODS: All exons of the EXT1 and EXT2...

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Source

Identifiers

PMID: 29989442
DOI: 10.1089/gtmb.2018.0072

Genes

EXT1
EXT2

Variants

Provenance

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Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.Semantic proximity Read ↗

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Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.Semantic proximity Read ↗

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A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis.Semantic proximity Read ↗

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