Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

Balogh, E; Chandler, JC; Varga, M; Tahoun, M; Menyhard, DK; Schay, G; Goncalves, T; Hamar, R; Legradi, R; Szekeres, A; Gribouval, O; Kleta, R; Stanescu, H; Bockenhauer, D; Kerti, A; Williams, H; Kinsler, V; Di, WL; Curtis, D; Kolatsi-Joannou, M; Hammid, H; Szocs, A; Perczel, K; Maka, E; Toldi, G; Sava, F; Arrondel, C; Kardos, M; Fintha, A; Hossain, A; D'Arco, F; Kaliakatsos, M; Koeglmeier, J; Mifsud, W; Moosajee, M; Faro, A; Javorszky, E; Rudas, G; Saied, MH; Marzouk, S; Kelen, K; Gotze, J; Reusz, G; Tulassay, T; Dragon, F; Mollet, G; Motameny, S; Thiele, H; Dorval, G; Nurnberg, P; Perczel, A; Szabo, AJ; Long, DA; Tomita, K; Antignac, C; Waters, AM; Tory, K

Varga, M; Tory, K (corresponding author), Semmelweis Univ, MTA SE Lendulet Nephrogenet Lab, HU-1083 Budapest, Hungary.; Tory, K (corresponding author), Semmelweis Univ, Dept Pediat 1, HU-1083 Budapest, Hungary.; Waters, AM (corresponding author), UCL, Great Ormond St Inst Child Hlth, Dev Biol & Canc Programme, London WC1N 1EH, England.; Varga, M (corresponding author), Eotvos Lorand Univ, Dept Genet, HU-1117 Budapest, Hungary.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2020; 117 (26): 15137