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[Clinical and genetic analysis of a child with mental retardation autosomal dominant 7].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2022

Zhuo Zhihong, Wang Yao, Fu Tianjiao, Fang Xiao, Xu Xiaoli, Wang Yue, Kong Huimin, Wang Huaili

Abstract excerpt

OBJECTIVE: To analyze the clinical and genetic characteristics of a child with clinical manifestations of hypoplasia, epilepsy and abnormal face. METHODS: The clinical data of the child were collected. The peripheral blood samples of the patient and his parents were extracted for high-throughput sequencing, and Sanger sequencing verification and bioinformatics analysis were performed to detect suspected...

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PMID: 35598272
DOI: 10.3760/cma.j.cn511374-20210409-00317

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