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Article

[Prenatal diagnosis of a fetus with X-linked hypohidrotic ectodermal dysplasia].

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

Duan Fuhua, Wang Conghui, Ren Shumin, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To detect variant of EDA gene in a fetus with absence of germ teeth detected by prenatal ultrasonography. METHODS: Clinical data and amniotic fluid and peripheral venous blood samples of the pregnant woman were collected for the analysis. Following extraction of genome DNA, the coding regions of the EDA gene were amplified by PCR and subjected to next-generation sequencing. Candidate variant was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33179237
DOI: 10.3760/cma.j.cn511374-20191110-00570

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