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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Publicat a:Eur J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
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Article
Accés en línia: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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