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[Analysis of genetic variant in a fetus featuring pontocerebellar hypoplasia type 6].

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

Weng Xiaojing, Liu Yuefang, Peng Yuan, Liang Zhe, Jin Xin, Cheng Longfei, Niu Huiyuan, Pan Qiong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a fetus with cerebellar dysplasia and widened lateral ventricles. METHODS: The couple have elected induced abortion after careful counseling. Skin tissue sample from the abortus and peripheral venous blood samples from both parents were collected for the extraction of genomic DNA, which was then subjected to whole exome sequencing. Candidate variant was verified by...

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PMID: 34247374
DOI: 10.3760/cma.j.cn511374-20200512-00340

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