Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

Hereditary hearing loss (HL) is a common sensory disorder, with an incidence of 1-2 per 1000 newborns, and has a genetic etiology in over 50% of cases. It occurs either as part of a syndrome or in isolation and is genetically very heterogeneous which poses a challenge for clinical and molecular diag...

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Bibliographic Details
Main Authors: Tina Likar, Mensuda Hasanhodžić, Nataša Teran, Aleš Maver, Borut Peterlin, Karin Writzl
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5749682?pdf=render