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[Clinical characteristics and genetic analysis of a child with Char syndrome caused by TFAP2B gene variant].

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

Hu Bo, Liu Zongyuan, Zhang Xiaoman, Yang Debin, Li Yuanzhe, Li Haibei, Fang Shuanfeng

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic etiology of a child with Char syndrome. METHODS: A child who was presented at the Department of Child Health, Henan Children's Hospital in February 2022 was selected as the study subject. Clinical data of the child was collected, and peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. Whole exome sequencing...

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PMID: 39097275
DOI: 10.3760/cma.j.cn511374-20230619-00371

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