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

• Main Authors: Hui Dong Lim (Author), So Min Lee (Author), Ye Jin Yun (Author), Dae Hee Lee (Author), Jun Ho Lee (Author), Seung-Ha Oh (Author), Sang-Yeon Lee (Author)
• Format: Book
• Published: BMC, 2023-04-01T00:00:00Z.
• Subjects: article
• Online Access: 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...