The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region

Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the GJB2 gene. However, patients carrying only one heterozygous pathogenic (monoallelic) GJB2 variant represent a long-lasting diagnostic problem. Interestingly, previous results...

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Veröffentlicht in:Genes (Basel)
Hauptverfasser: Safka Brozkova, Dana, Uhrova Meszarosova, Anna, Lassuthova, Petra, Varga, Lukáš, Staněk, David, Borecká, Silvia, Laštůvková, Jana, Čejnová, Vlasta, Rašková, Dagmar, Lhota, Filip, Gašperíková, Daniela, Seeman, Pavel
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2021
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8147375/
https://ncbi.nlm.nih.gov/pubmed/34062854
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12050684
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