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

• Автори: Hui Dong Lim (Автор), So Min Lee (Автор), Ye Jin Yun (Автор), Dae Hee Lee (Автор), Jun Ho Lee (Автор), Seung-Ha Oh (Автор), Sang-Yeon Lee (Автор)
• Формат: Книга
• Опубліковано: BMC, 2023-04-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...