Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis
Mars Z,Zanetti A,Kaminska K,Miyagawa T,Liu D,Antonio A,Arno G,Audo I,Ayuso C,Muhammad Jafar Hussain H,Bao X,Barberán-Martínez P,Bocquet B,Boguszewska-Chachulska A,Condroyer C,David P,Dollfus H,Fares-Taie L,Fernández-Caballero L,García-García G,Michel V,Guerrera C,Jung V,Kessel L,Gioja L,Lin S,Matczynska E,Millán J,Moye A,Martín-Gutiérrez M,Quinodoz M,Robert M,Roger J,Sousa-Luis R,Swafiri S,Teper S,Meunier I,Patat O,Pennesi M,Wadt K,Wang M,Webster A,Yang P,Yumei L,Zeitz C,Rieux-Laucat F,Giraudier S,Chen R,Fica S,Rivolta C,Sebert M,Rozet J,Perrault I
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