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Article

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

PloS one - 1 Jan 2018

Likar Tina, Hasanhodžić Mensuda, Teran Nataša, Maver Aleš, Peterlin Borut, Writzl Karin

Abstract excerpt

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 diagnosis. We used exome sequencing to seek a genetic cause in a group of 56 subjects (49 probands) with HL: 32 with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29293505
DOI: 10.1371/journal.pone.0188578
PMCID: PMC5749682

Genes

GJB2
CHD7
HDAC8
MITF
NEFL
OTOF
TECTA
TMPRSS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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