GeneticsProceedings of the National Academy of SciencesPeer-reviewed
Mutations in TMEM43 cause autosomal dominant auditory neuropathy spectrum disorder via interaction with Connexin-mediated passive conductance channels
Minwoo Wendy Jang, Doo‐Yi Oh, Eunyoung Yi…·Byung Yoon Choi
This study identifies TMEM43 mutations as a cause of autosomal dominant auditory neuropathy spectrum disorder by showing their interaction with Connexin-mediated channels in cochlear glia-like supporting cells.
33 citations