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Case Report: Novel Heterozygous DFNA5 Splicing Variant Responsible for Autosomal Dominant Non-syndromic Hearing Loss in a Chinese Family

Autosomal dominant non-syndromic hearing loss (ADNSHL) has a broad phenotypic spectrum which includes bilateral, symmetrical, and high-frequency sensorineural hearing loss, that eventually progresses into hearing loss at all frequencies. Several genetic variations have been identified as causal fact...

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Detalles Bibliográficos
Autores principales:	Chen, Xi, Jia, Bao-Long, Li, Mei-Hui, Lyu, Yuan, Liu, Cai-Xia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7489037/ https://www.ncbi.nlm.nih.gov/pubmed/33110423 http://dx.doi.org/10.3389/fgene.2020.569284

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