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[Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene].

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

Dong Yan, Shi Xiaoyi, Du Kaixian, Shi Yali, Wang Jun, Jia Tianming, Zhang Ke, Xu Ruijuan, Wang Lijun

Abstract excerpt

OBJECTIVE: To analyze the clinical characteristics and genetic basis of two children patients with CHARGE syndrome. METHODS: The clinical features of the two patients were analyzed, and potential variants were detected by Trio whole exome sequencing (trio-WES) of the probands and their parents. RESULTS: Child 1 has manifested cerebellar vermis dysplasia, enlargement of cerebral ventricles, whereas child 2...

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CHARGE Syndrome
DNA-Binding Proteins
DNA Helicases
Exome Sequencing
Genetic Testing

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PMID: 35446972
DOI: 10.3760/cma.j.cn511374-20210405-00303

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