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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...
Gorde:
| Argitaratua izan da: | Genes (Basel) |
|---|---|
| Egile Nagusiak: | , , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
MDPI
2021
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| Gaiak: | |
| Sarrera elektronikoa: | 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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