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Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4

PURPOSE: Usher syndrome is a genetic disease characterized by combined sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia, with 15 known causative genes. Depending on the severity and onset of the symptoms, 3 different subtypes of the pathology have been classically establish...

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Detalles Bibliográficos
Autores principales:	Abad-Morales, Víctor, Navarro, Rafael, Burés-Jelstrup, Anniken, Pomares, Esther
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7235610/ https://www.ncbi.nlm.nih.gov/pubmed/32455177 http://dx.doi.org/10.1016/j.ajoc.2020.100736

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