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[Whole exome sequencing analysis and prenatal diagnosis for a Chinese pedigree affected with microphthalmia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2021

Zhang Qin, Xiang Jingjing, Yang Fei, Zhang Wei, Mao Jun, Liu Yinghua, Li Hong

Abstract excerpt

OBJECTIVE: To analyze clinical features and genetic cause for a Chinese pedigree affected with microphthalmia. METHODS: The proband and his parents were subjected to whole exome sequencing (WES) to identify potential pathogenic variants. Sanger sequencing was carried out to confirm the result of WES in available members from the pedigree. Prenatal diagnosis was provided to the proband's mother by genetic testing...

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PMID: 33423259
DOI: 10.3760/cma.j.cn511374-20190829-00438

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