JAMA ophthalmology۲۰۲۶گزارش مورد۲ استنادنمایه شده در PubMed
Sanja Boranijasevic, Vasily Smirnov, Julien Navarro, Martha Tjon-Fo-Sang, Christel Condroyer, Lonneke Haer-Wigman, Aline Antonio, Claire-Marie Dhaenens, Virginie J M Verhoeven, José-Alain Sahel, L Ingeborgh van den Born, Sabine Defoort, Isabelle Audo, Christina Zeitz
چکیده
Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous inherited retinal disorder (IRD), and in many complete CSNB (cCSNB) cases, the underlying genetic cause remains unknown. Uncovering the genetic defects of IRDs helps to refine diagnostic methods and supports…
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DOI: 10.1001/jamaophthalmol.2025.4888