Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants

Non-syndromic sensorineural hearing loss (SNHL) is the most common sensory disorder, and it presents a high genetic heterogeneity. As part of our clinical genetic studies, we ascertained a previously unreported mutation in CCDC50 [c.828_858del, p.(Asp276Glufs*40)] segregating with hearing impairment...

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Detalles Bibliográficos
Autores principales: Lachgar-Ruiz, María, Morín, Matías, Martelletti, Elisa, Ingham, Neil J., Preite, Lorenzo, Lewis, Morag A., Serrão de Castro, Luciana Santos, Steel, Karen P., Moreno-Pelayo, Miguel Ángel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10445743/
https://www.ncbi.nlm.nih.gov/pubmed/37165931
http://dx.doi.org/10.1242/dmm.049757

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10445743/
https://www.ncbi.nlm.nih.gov/pubmed/37165931
http://dx.doi.org/10.1242/dmm.049757

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