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[Genetic testing of a Chinese pedigree affected with non-syndromic autosomal dominant deafness 15].

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

Kang Hongfei, Zhao Kaihui, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis of a Chinese pedigree affected with progressive non-syndromic sensorineural hearing loss. METHODS: High-throughput DNA sequencing was carried out to analyze 415 genes associated with hereditary deafness in the proband. Sanger sequencing was carried out to verify the suspected variants among her family members. RESULTS: The proband was found to carry a heterozygous c.842T>A...

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PMID: 34247367
DOI: 10.3760/cma.j.cn511374-20200821-00618

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