Retina Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced SCone Syndrome

semanticscholar(2016)

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摘要
Department of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Department of Neurology, Hillel Yaffe Medical Center, Hadera, Israel Ruth & Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel Unit of Otolaryngology-Head & Neck Surgery, Hillel Yaffe Medical Center, Hadera, Israel Department of Ophthalmology, Hillel Yaffe Medical Center, Hadera, Israel
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