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[Clinical phenotype and genotype analysis of the family with the Usher syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2020

Lin Changliang, Lyu Yuan, Li Chuang, Zhang Zhitao, Feng Xinghuo

Abstract excerpt

OBJECTIVE: To detect potential variants in a family affected with Usher syndrome type I, and analyze its genotype-phenotype correlation. METHODS: Clinical data of the family was collected. Potential variants in the proband were detected by high-throughput sequencing. Suspected variants were verified by Sanger sequencing. RESULTS: The proband developed night blindness at 10 year old, in addition with bilateral...

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Identifiers

PMID: 32219829
DOI: 10.3760/cma.j.issn.1003-9406.2020.04.016

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