Article
Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
Audiology & neuro-otology - 1 Jan 2023
Nisenbaum Eric, Yan Denise, Shearer A Eliot, de Joya Evan, Thielhelm Torin, Russell Nicole, Staecker Hinrich, Chen Zhengyi, Holt Jeffrey R, Liu Xuezhong
Abstract excerpt
BACKGROUND: Mutations in TMPRSS3 are an important cause of autosomal recessive non-syndromic hearing loss. The hearing loss associated with mutations in TMPRSS3 is characterized by phenotypic heterogeneity, ranging from mild to profound hearing loss, and is generally progressive. Clinical presentation and natural history of TMPRSS3 mutations vary significantly based on the location and type of mutation in the...
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