Article
Auditory Neuropathy Spectrum Disorder (ANSD)-Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families.
BioMed research international - 1 Jan 2020
Zhai Rongqun, Feng Haifeng, Li Qingli, Lu Wei, Liu Danhua, Tian Yongan, Liu Huanfei, Li Ruijun, Zuo Bin, Tang Wenxue, Xu Hongen, Chen Bei
Abstract excerpt
OBJECTIVE: To analyze the phenotypic features and pathogenic variants of three unrelated families presenting with nonsyndromic auditory neuropathy spectrum disorder (ANSD). METHODS: Three recruited families that were affected by congenital deafness were clinically evaluated, including a detailed family history and audiological and radiological examination. The peripheral blood of all patients and their parents...
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