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[Genetic analysis and reproductive intervention for 46 Chinese pedigrees affected with Hereditary multiple exostoses].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2026

Su Lilan, Hu Xiao, Dai Jing, Wan Zhengxing, Yi Duo, Li Shuangfei, Hu Liang, Tan Yueqiu, Gong Fei, Lin Ge, Lu Guangxiu, Zhang Qianjun, Du Juan, He Wenbin

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41918380
DOI: 10.3760/cma.j.cn511374-20251224-00746

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EXT1
EXT2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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