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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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| Vydáno v: | Eur J Hum Genet |
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| Hlavní autoři: | , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group
2015
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| Témata: | |
| On-line přístup: | 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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