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...

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Detalles Bibliográficos
Autores principales: Le Nabec, Anaïs, Collobert, Mégane, Le Maréchal, Cédric, Marianowski, Rémi, Férec, Claude, Moisan, Stéphanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391926/
https://www.ncbi.nlm.nih.gov/pubmed/34440441
http://dx.doi.org/10.3390/genes12081267

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