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Retinitis pigmentosa associated with a mutation in BEST1
PURPOSE: There is only one prior report associating mutations in BEST1 with a diagnosis of retinitis pigmentosa (RP). The imaging studies presented in that report were more atypical of RP and shared features of autosomal recessive bestrophinopathy and autosomal dominant vitreoretinochoroidopathy. He...
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| Yayımlandı: | Am J Ophthalmol Case Rep |
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| Asıl Yazarlar: | , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Elsevier
2016
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5757359/ https://ncbi.nlm.nih.gov/pubmed/29503890 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2016.03.005 |
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