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[Genetic diagnosis of a pedigree affected with Usher syndrome type 1D/F].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2021

Kang Hongfei, Zhao Kaihui, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a pedigree affected with congenital sensorineural deafness. METHODS: High-throughput sequencing was carried out to analyze the coding regions of 415 genes associated with hereditary deafness in the proband. Suspected variants were verified by PCR amplification and Sanger sequencing of her parents and sister. RESULTS: The proband was found to have carried a heterozygous...

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PMID: 34625930
DOI: 10.3760/cma.j.cn511374-20200729-00561

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