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An Update on the Genetics of Usher Syndrome

Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause underlying deafness and blindness of genetic origin. Clinically, US...

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Autors principals: Millán, José M., Aller, Elena, Jaijo, Teresa, Blanco-Kelly, Fiona, Gimenez-Pardo, Ascensión, Ayuso, Carmen
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3017948/
https://ncbi.nlm.nih.gov/pubmed/21234346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2011/417217
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