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[Genetic analysis of five pedigrees affected with multiple osteochondromas].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2020

Bai Ying, Jiao Zhihui, Liu Ning, Hu Shuang, Zhao Kaihui, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To detect variants of EXT1 and EXT2 genes among five pedigrees affected with multiple osteochondromas and provide prenatal diagnosis for the families based on the results. METHODS: The EXT1 and EXT2 genes of the probands were analyzed by targeted next generation sequencing (NGS). Suspected pathological variants were validated by Sanger sequencing in the probands, their family members and 200 unrelated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32619249
DOI: 10.3760/cma.j.issn.1003-9406.2020.07.004

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