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Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas

1 Oct 2018

Abstract excerpt

Hereditary multiple osteochondroma (HMO) is one of the most common genetic skeletal disorders. It is caused by mutations in either EXT1 or EXT2 resulting in abnormal skeletal growth and morphogenesis. However, the spectrum and frequency of EXT1 and EXT2 mutations in Chinese patients with HMO was not previously investigated.Mutations were identified by performing Sanger sequencing analysis of the complete coding...

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PMID: 30334991
DOI: 10.1097/md.0000000000012855

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