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Senior-Løken Syndrome: A syndromic form of retinal dystrophy associated with nephronophthisis
Senior-Løken syndrome (SLS) is an autosomal recessive disease characterized by development of a retinitis pigmentosa (RP)- or Leber congenital amaurosis (LCA)-like retinal dystrophy and a medullary cystic kidney disease, nephronophthisis. Mutations in several genes (called nephrocystins) have been s...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3504181/ https://ncbi.nlm.nih.gov/pubmed/22819833 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.visres.2012.07.003 |
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