Article
Auditory Outcome after Cochlear Implantation in Children with DFNB7/11 Caused by Pathogenic Variants in TMC1 Gene.
Audiology & neuro-otology - 1 Jan 2021
Gallo Samanta, Trevisi Patrizia, Rigon Chiara, Caserta Ezio, Seif Ali Dario, Bovo Roberto, Martini Alessandro, Cassina Matteo
Abstract excerpt
INTRODUCTION: Non-syndromic hereditary hearing loss is characterized by extreme genetic heterogeneity. So far, more than 100 pathogenic or likely pathogenic variants in TMC1 gene have been reported in patients with autosomal recessive hearing loss (HL) DFNB7/11. The prevailing auditory phenotype of individuals with DFNB7/11 is congenital, profound, bilateral HL, but the functional outcome after cochlear...
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