Article
Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.
Scientific reports - 27 Feb 2024
Lei Peiliang, Zhu Qingwen, Dong Wenrong
Abstract excerpt
Hearing loss is considered one of the most common sensory neurological defects, with approximately 60% of cases attributed to genetic factors. Human pathogenic variants in the TBC1D24 gene are associated with various clinical phenotypes, including dominant nonsyndromic hearing loss DFNA65, characterized by progressive hearing loss after the development of language. This study provides an in-depth analysis of the...
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