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Article

Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation.

Molecular medicine reports - 1 Apr 2022

Wang Wentao, Yang Mingyuan, Shen Yuhang, Chen Kai, Wu Donghua, Yang Changwei, Bai Jinyi, He Dawei, Gao Jun

Abstract excerpt

The aim of the present study was to report a clinical survey of hereditary multiple exostoses (HME) in a large Chinese pedigree, and the identification of a novel deletion mutation of exostosin glycosyltransferase 2 (EXT‑2) gene. A patient with multiple exostoses with huge cartilage‑capped tumors in scapula, knees and ankles received surgery in Department of Orthopedics (Shanghai Changhai Hospital). A total of...

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Identifiers

PMID: 35211766
DOI: 10.3892/mmr.2022.12657
PMCID: PMC8915398

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