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[Analysis of COL1A1 and COL1A2 gene variants in two fetuses with osteogenesis imperfecta].

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

Zhang Yaning, Wu Xinyue, Liu Qiaoyun, Yan Xiaona, Liu Huize, Feng Dairong

Abstract excerpt

OBJECTIVE: To explore the genetic basis of two fetuses with an osteogenesis imperfecta (OI) phenotype. METHODS: Two fetuses diagnosed at the Affiliated Hospital of Weifang Medical College respectively on June 11, 2021 and October 16, 2021 were selected as the study subjects. Clinical data of the fetuses were collected. Amniotic fluid samples of the fetuses and peripheral blood samples of their pedigree members...

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PMID: 37368383
DOI: 10.3760/cma.j.cn511374-20220722-00486

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