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A large deletion in GPR98 causes type IIC Usher syndrome in male and female patients of an Iranian family
BACKGROUND: Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa...
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Gepubliceerd in: | J Med Genet |
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Hoofdauteurs: | , , , , , , |
Formaat: | Artigo |
Taal: | Inglês |
Gepubliceerd in: |
2009
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Onderwerpen: | |
Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4432478/ https://ncbi.nlm.nih.gov/pubmed/19357116 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2008.060947 |
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