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[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Canavan disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2022

Sun Gege, Zhu Xiaofan, Hu Shuang, Liu Lina, Wang Li, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese patient suspected for Canavan disease. METHODS: Whole exome sequencing (WES) was carried out for the proband, and candidate variants were verified by Sanger sequencing of the proband, her parents and brother. Prenatal diagnosis was provided to her mother by chorionic villi sampling (CVS) upon her subsequent pregnancy. RESULTS: The proband, a 4-month-old female...

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PMID: 35929936
DOI: 10.3760/cma.j.cn511374-20210612-00499

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