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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...

詳細記述

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書誌詳細
主要な著者: Millán, José M., Aller, Elena, Jaijo, Teresa, Blanco-Kelly, Fiona, Gimenez-Pardo, Ascensión, Ayuso, Carmen
フォーマット: Artigo
言語:Inglês
出版事項: Hindawi Publishing Corporation 2011
主題:
オンライン・アクセス: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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