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

Internet

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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