Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss

Variants in the CDH23 gene are known to be responsible for both syndromic hearing loss (Usher syndrome type ID: USH1D) and non-syndromic hearing loss (DFNB12). Our series of studies demonstrated that CDH23 variants cause a broad range of phenotypes of non-syndromic hearing loss (DFNB12); from congen...

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Detalles Bibliográficos
Autores principales: Usami, Shin-ichi, Isaka, Yuichi, Miyagawa, Maiko, Nishio, Shin-ya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034991/
https://www.ncbi.nlm.nih.gov/pubmed/35020051
http://dx.doi.org/10.1007/s00439-022-02431-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034991/
https://www.ncbi.nlm.nih.gov/pubmed/35020051
http://dx.doi.org/10.1007/s00439-022-02431-2

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