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[Prenatal diagnosis for a fetus with Walker-Warburg syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2023

Ma Panpan, Chen Xue, Hui Ling, Zhang Qinghua, Zhang Chuan, Hao Shengju, Yang Lan, Wang Xing, Xu Furong, Zhou Bingbo

Abstract excerpt

OBJECTIVE: To explore the genetic etiology for a fetus with Walker-Warburg syndrome(WWS). METHODS: A fetus with WWS diagnosed at Gansu Provincial Maternity and Child Health Care Hospital in June 9, 2021 was selected as the study subject. Genomic DNA was extracted from amniotic fluid sample of the fetus and peripheral blood samples from its parents. Trio-Whole exome sequencing (trio-WES) was carried out. Candidate...

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Prenatal Diagnosis

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PMID: 37102292
DOI: 10.3760/cma.j.cn511374-20220425-00279

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