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Retinal Pathology of a Patient with Goldmann-Favre Syndrome

PURPOSE: To define the retinal pathology in an 88 year-old male affected with Goldmann-Favre syndrome with a 2bp 5´ A>C splice site mutation in the NR2E3 gene. METHODS: Retinal tissue from the macula and periphery was processed for immunohistochemistry. Perimacular retina was processed for transm...

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Autori principali: Bonilha, Vera L., Fishman, Gerald A., Rayborn, Mary E., Hollyfield, Joe G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3655805/
https://ncbi.nlm.nih.gov/pubmed/19852574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/13816810903176765
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