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

• Auteurs principaux: Hui Dong Lim (Auteur), So Min Lee (Auteur), Ye Jin Yun (Auteur), Dae Hee Lee (Auteur), Jun Ho Lee (Auteur), Seung-Ha Oh (Auteur), Sang-Yeon Lee (Auteur)
• Format: Livre
• Publié: BMC, 2023-04-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract 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 a...