Investigative ophthalmology & visual science۲۰۲۶مطالعه مشاهده ای۱ استنادنمایه شده در PubMed
Maram E A Abdalla Elsayed, Omar A Mahroo, Andrew Webster, Stephen H Tsang, João Pedro Marques, Elias Traboulsi, Tien-En Tan, Camiel J F Boon, Cristina Martinez-Fernandez de la Camara, Beau J Fenner, Vincenzo Barone, Hélène Dollfus, Robert E MacLaren
چکیده
RPGRORF15-associated retinal degeneration is characterized by clinical and genetic heterogeneity: Proximal mutations typically result in rod-cone dystrophy, distal mutations in cone-dominated disease, and mutations within open-reading frame 15 (ORF15) in either phenotype. This study characterizes…
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DOI: 10.1167/iovs.67.10.24