A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder
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DOI: 10.1073/pnas.2019681118
Abstract: Significance Auditory neuropathy spectrum disorder (ANSD) is a confounding auditory disease in which the subjects respond to sound but have difficulties in speech discrimination. Herein, we examined two Asian families with hereditary late-age–onset ANSD. By… read more here.
Keywords: auditory neuropathy; neuropathy spectrum; tmem43; spectrum disorder ... See more keywords