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[Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene].

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

Han Rui, Liu Xiaoran, Ye Erdengqieqieke, Wu Shuang, Zhao Jing, Duan Ling, Xia Yan, Ding Jianbing

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a Chinese pedigree suspected for branchiootic syndrome (BOS). METHODS: The proband was subjected to target-capture high-throughput sequencing to detect potential variant of deafness-associated genes. Candidate variants were verified by Sanger sequencing of the family members. RESULTS: The proband was found to harbor a c.1627C>T (p.Gln543Ter)...

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PMID: 35446969
DOI: 10.3760/cma.j.cn511374-20201210-00866

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