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TITLE: De novoSMARCA2variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
AUTHORS: Cappuccio, G; Sayou, C; Tanno, PL; Tisserant, E; Bruel, AL; Kennani, SE; Sá, J; Low, KJ; Dias, C; Havlovicová, M; Hančárová, M; Eichler, EE; Devillard, F; Moutton, S; Van Gils, J; Dubourg, C; Odent, S; Gerard, B; Piton, A; Yamamoto, T; Okamoto, N; Firth, H; Metcalfe, K; Moh, A; Chapman, KA; Aref Eshghi, E; Kerkhof, J; Torella, A; Nigro, V; Perrin, L; Piard, J; Le Guyader, G; Jouan, T; Thauvin Robinet, C; Duffourd, Y; George Abraham, JK; Buchanan, CA; Williams, D; Kini, U; Wilson, K; Nigro, V; Brunetti Pierri, N; Casari, G; Cappuccio, G; Torella, A; Pinelli, M; Musacchia, F; Mutarelli, M; Carrella, D; Vitiello, G; Capra, V; Parenti, G; Leuzzi, V; Selicorni, A; Maitz, S; Banfi, S; Zollino, M; Montomoli, M; Milani, D; Romano, C; Tummolo, A; De Brasi, D; Coppola, A; Santoro, C; Peron, A; Pantaleoni, C; Castello, R; D’Arrigo, S; Sousa, SB; Hennekam, RCM; Sadikovic, B; Thevenon, J; Govin, J; Vitobello, A; Brunetti Pierri, N; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE
INDEXED IN: Scopus WOS