Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

Dyon Valkenburg, Caroline van Cauwenbergh, Birgit Lorenz, Mies M van Genderen, Mette Bertelsen, Jan-Willem R Pott, Frauke Coppieters, Julie de Zaeytijd, Alberta A H J Thiadens, Caroline C W Klaver, Hester Y Kroes, Mary J van Schooneveld, Markus Preising, Carel B Hoyng, Bart P Leroy, L Ingeborgh van den Born, Rob W J Collin

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology

Neuroscience