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Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients
Hearing loss is the most common sensory defect, due in most cases to a genetic origin. Variants in the GJB2 gene are responsible for up to 30% of non-syndromic hearing loss. Today, several deafness genotypes remain incomplete, confronting us with a diagnostic deadlock. In this study, whole-genome se...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391926/ https://www.ncbi.nlm.nih.gov/pubmed/34440441 http://dx.doi.org/10.3390/genes12081267 |