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

Internet

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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