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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...
Autores principales: | Toms, Maria, Pagarkar, Waheeda, Moosajee, Mariya |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2020
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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 |
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