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WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome

BACKGROUND: Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function. Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants cause DFNA6/14/38 and wolfr...

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Detalles Bibliográficos
Autores principales: Lim, Hui Dong, Lee, So Min, Yun, Ye Jin, Lee, Dae Hee, Lee, Jun Ho, Oh, Seung-Ha, Lee, Sang-Yeon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088283/
https://www.ncbi.nlm.nih.gov/pubmed/37041640
http://dx.doi.org/10.1186/s12920-023-01506-x