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&...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Journal article
Iaith:English
Cyhoeddwyd: Elsevier 2022

Eitemau Tebyg