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[Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2024

Chai Yuqiong, Wang Jieqiong, Wang Yaxin, Zhang Pai, Jin Jiapei, Wang Ya'nan

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a fetus with Coffin-Siris syndrome (CSS). METHODS: A fetus with abnormal ultrasound findings detected at Luoyang Maternal and Child Health Care Hospital in July 2023 was selected as the study subject. Clinical data were analyzed retrospectively. Whole exome sequencing was carried out on fetal tissue and parental peripheral blood samples, and candidate variant was...

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Identifiers

PMID: 39344623
DOI: 10.3760/cma.j.cn511374-20231214-00322

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