Partial USH2A deletions contribute to Usher syndrome in Denmark

Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in some cases vestibular dysfunction. Usher syndrome is divided into three subtypes, USH1, USH2 and USH3. Twelve loci and eleven genes have so f...

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Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Main Authors: Dad, Shzeena, Rendtorff, Nanna D, Kann, Erik, Albrechtsen, Anders, Mehrjouy, Mana M, Bak, Mads, Tommerup, Niels, Tranebjærg, Lisbeth, Rosenberg, Thomas, Jensen, Hanne, Møller, Lisbeth B
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2015
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795208/
https://ncbi.nlm.nih.gov/pubmed/25804404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.54
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