Article
Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients.
Hearing research - 1 Mar 2016
Burke W F, Warnecke A, Schöner-Heinisch A, Lesinski-Schiedat A, Maier H, Lenarz T
Abstract excerpt
Mutations in the GJB2 gene are known to represent the commonest cause of hereditary and congenital hearing loss. In this study, a complete sequencing of the GJB2 gene in a cohort of 506 patients from a single, large cochlear implant program in Europe was performed. Audiological testing for those patients who could actively participate was performed using pure tone audiometry (PTA). Those unable to undergo PTA...
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