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Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families

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 fam...

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Detalles Bibliográficos
Autores principales: Zhai, Rongqun, Feng, Haifeng, Li, Qingli, Lu, Wei, Liu, Danhua, Tian, Yongan, Liu, Huanfei, Li, Ruijun, Zuo, Bin, Tang, Wenxue, Xu, Hongen, Chen, Bei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7772035/
https://www.ncbi.nlm.nih.gov/pubmed/33426078
http://dx.doi.org/10.1155/2020/8843539