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Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa

BACKGROUND: The RPE65 gene was recently described to cause autosomal dominant retinitis pigmentosa (adRP), presenting with a phenotype resembling choroideremia. This study presents the 2-year progression of RPE65 adRP in a patient. METHODS: This is an observational case report of one patient. The pa...

詳細記述

保存先:
書誌詳細
出版年:Ophthalmic Genet
主要な著者: Jauregui, Ruben, Park, Karen Sophia, Tsang, Stephen H.
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6314189/
https://ncbi.nlm.nih.gov/pubmed/29947567
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2018.1484929
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