Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: the RD5000 Consortium.
Pam A. T. Heutinck, L. Ingeborgh van den Born,Maikel Vermeer, Adriana I. Iglesias Gonzales,Carel B. Hoyng,Jan Willem R. Pott,Hester Y. Kroes, Mary J. van Schooneveld, Camiel J. F. Boon,Maria M. van Genderen,Astrid S. Plomp,Yvonne de Jong-Hesse,Michelle B. van Egmond-Ebbeling,Lies H. Hoefsloot,Arthur A. Bergen, Caroline C. W. Klaver,Magda A. Meester-Smoor,Alberta A. H. J. Thiadens,Virginie J. M. Verhoeven INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE(2024)
关键词
inherited retinal dystrophy,gene therapy,pediatric
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