Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss

TMC1 is a causative gene for both autosomal dominant non-syndromic hearing loss (DFNA36) and autosomal recessive non-syndromic hearing loss (DFNB7/11). To date, 125 pathogenic variants in TMC1 have been reported. Most of the TMC1 variants are responsible for autosomal recessive hearing loss, with on...

Descripción completa

Detalles Bibliográficos
Autores principales: Nishio, Shin-ya, Usami, Shin-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034981/
https://www.ncbi.nlm.nih.gov/pubmed/34523024
http://dx.doi.org/10.1007/s00439-021-02364-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034981/
https://www.ncbi.nlm.nih.gov/pubmed/34523024
http://dx.doi.org/10.1007/s00439-021-02364-2

Ejemplares similares