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Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.

Genetic testing and molecular biomarkers - 1 Feb 2021

Tong Yu, Zhang Yin, Luo Junchao, Hong Zheping, Chen Xinji, Bi Qing

Abstract excerpt

Aim: To detect mutations in the EXT1 and EXT2 genes in four Chinese families with hereditary multiple osteochondromas (HMO). HMO is an autosomal dominant disorder characterized by the overgrowth of multiple cartilage-capped bones in the metaphysis of long bones and flat bones. Methods: Polymerase chain reaction-based amplification followed by DNA sequencing of the complete coding sequences of EXT1 and EXT2 was...

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Exons
Exostoses, Multiple Hereditary
Exostosin 1
Exostosin 2
Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Frameshift Mutation

Mutation, Missense

N-Acetylglucosaminyltransferases

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PMID: 33596140
DOI: 10.1089/gtmb.2020.0098

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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