Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss

Sensorineural age-related hearing loss affects a large proportion of the elderly population, and has both environmental and genetic causes. Notwithstanding increasing interest in this debilitating condition, the genetic risk factors remain largely unknown. Here, we report the case of two sisters aff...

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Detalles Bibliográficos
Autores principales: Borgese, Nica, Guillén-Samander, Andrés, Colombo, Sara Francesca, Mancassola, Giulia, Di Berardino, Federica, Zanetti, Diego, Carrera, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10604119/
https://www.ncbi.nlm.nih.gov/pubmed/37893031
http://dx.doi.org/10.3390/biomedicines11102657

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10604119/
https://www.ncbi.nlm.nih.gov/pubmed/37893031
http://dx.doi.org/10.3390/biomedicines11102657

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