Article
Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes.
BMC medical genomics - 4 Sept 2018
Lewis Morag A, Nolan Lisa S, Cadge Barbara A, Matthews Lois J, Schulte Bradley A, Dubno Judy R, Steel Karen P, Dawson Sally J
Abstract excerpt
BACKGROUND: Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adult-onset progressive hearing loss. Despite several genome-wide association studies of adult hearing status, it remains unclear whether the genetic architecture of this common...
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