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Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome

Hearing loss (HL) is the most common congenital sensory impairment. Usher syndrome (USH) is the leading genetic etiology of congenital deafness combined with progressive vision loss, and individuals presenting with these symptoms are often assumed to have USH. This can be an erroneous assumption, as...

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Detalles Bibliográficos
Autores principales: Medina, Genevieve, Perry, Julia, Oza, Andrea, Kenna, Margaret
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8327880/
https://www.ncbi.nlm.nih.gov/pubmed/34021019
http://dx.doi.org/10.1101/mcs.a006088