Article
[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 7 May 2023
Yang J Y, Wang Q Q, Han M Y, Huang S S, Kang D Y, Zhang X, Yang S Y, Dai P, Yuan Y Y
Abstract excerpt
Objective: To analyze the phenotypic-genotypic characteristics of hereditary deafness caused by OTOA gene variations. Methods: Family histories, clinical phenotypes and gene variations of six pedigrees were analyzed, which were diagnosed with hearing loss caused by OTOA gene variations at the PLA General Hospital from September 2015 to January 2022. The sequence variations were verified by Sanger sequencing and...
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