The natural history of Leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

The natural history of Leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

<p><strong>Objective</strong> To describe the spectrum of Leber congenital amaurosis (LCA) and cone–rod dystrophy (CORD) associated with the GUCY2D gene and to identify potential end points and optimal patient selection for future therapeutic trials.</p> <p><strong&...

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Main Authors: Hahn, LC, Georgiou, M, Almushattat, H, van Schooneveld, MJ, de Carvalho, ER, Wesseling, NL, Ten Brink, JB, Florijn, RJ, Lissenberg-Witte, BI, Strubbe, I, van Cauwenbergh, C, de Zaeytijd, J, Walraedt, S, de Baere, E, Mukherjee, R, McKibbin, M, Meester-Smoor, MA, Thiadens, AAHJ, Al-Khuzaei, S, Akyol, E, Lotery, AJ, van Genderen, MM, Norel, JO-V, Ingeborgh van den Born, L, Hoyng, CB, Klaver, CCW, Downes, SM, Bergen, AA, Leroy, BP, Michaelides, M, Boon, CJF
格式: Journal article
语言:English
出版: Elsevier 2022

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