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Article

Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss.

Scientific reports - 18 Nov 2021

Pavlenkova Zuzana, Varga Lukas, Borecka Silvia, Karhanek Miloslav, Huckova Miloslava, Skopkova Martina, Profant Milan, Gasperikova Daniela

Abstract excerpt

The genetic heterogeneity of sensorineural hearing loss (SNHL) is a major hurdle to the detection of disease-causing variants. We aimed to identify underlying causal genes associated with mid-frequency hearing loss (HL), which contributes to less than about 1% of SNHL cases, by whole exome sequencing (WES). Thirty families segregating mid-frequency SNHL, in whom biallelic GJB2 mutations had been previously...

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Identifiers

PMID: 34795337
DOI: 10.1038/s41598-021-01876-1
PMCID: PMC8602250

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