Article
Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9).
Audiology & neuro-otology - 1 Jan 2016
Burgess Barbara J, O'Malley Jennifer T, Kamakura Takefumi, Kristiansen Kris, Robertson Nahid G, Morton Cynthia C, Nadol Joseph B
Abstract excerpt
The histopathology of the inner ear in a patient with hearing loss caused by the p.L114P COCH mutation and its correlation with the clinical phenotype are presented. To date, 23 COCH mutations causative of DFNA9 autosomal dominant sensorineural hearing loss and vestibular disorder have been reported, and the histopathology of the human inner ear has been described in 4 of these. The p.L114P COCH mutation was...
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