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Usher syndrome: clinical features, molecular genetics and advancing therapeutics

Usher syndrome has three subtypes, each being clinically and genetically heterogeneous characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without vestibular dysfunction. It is the most common cause of deaf–blindness worldwide with a prevalence of between 4 and 17 in 1...

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Detalles Bibliográficos
Autores principales: Toms, Maria, Pagarkar, Waheeda, Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7502997/
https://www.ncbi.nlm.nih.gov/pubmed/32995707
http://dx.doi.org/10.1177/2515841420952194