A novel heterozygous SIX1 missense mutation resulted in non-syndromic unilateral hearing loss

Familial non-syndromic unilateral hearing loss (NS-UHL) is rare and its genetic etiology has not been clearly elucidated. This study aimed to identify the genetic cause of NS-UHL in a three-generation Chinese family. Detailed medical history consultation and clinical examination were conducted. Furt...

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Detalles Bibliográficos
Autores principales: Li, Ang, Liu, Siwen, Zhang, Peng, Hu, Xintong, Li, Guiying, Gu, Weiyue, Jiang, Yanfang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9723219/
https://www.ncbi.nlm.nih.gov/pubmed/36482904
http://dx.doi.org/10.3389/fgene.2022.1047230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9723219/
https://www.ncbi.nlm.nih.gov/pubmed/36482904
http://dx.doi.org/10.3389/fgene.2022.1047230

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