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Article

[Analysis of a case with gonadal mosaicism for COL1A2 variant].

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

Zhu Haiyan, Chen Yuanyuan, Wang Lili, Wang Weizhou, He Sheng

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a couple with normal phenotype but repeated pregnancies with fetuses affected by osteogenesis imperfecta. METHODS: Whole exome sequencing (WES) was carried out on fetal specimens and parental DNA to detect potential pathologic variants. Suspected variants were verified by Sanger sequencing. Semen sample of the husband was collected for the extraction of genome DNA, and...

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PMID: 32335877
DOI: 10.3760/cma.j.issn.1003-9406.2020.05.007

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