Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. door Basel-Vanagaite, L, Dallapiccola, B, Ramirez-Solis, R, Segref, A, Thiele, H, Edwards, A, Arends, M, Miró, X, White, J, Désir, J, Abramowicz, M, Dentici, M, Lepri, F, Hofmann, K, Har-Zahav, A, Ryder, E, Karp, N, Estabel, J, Gerdin, A, Podrini, C, Ingham, N, Altmüller, J, Nürnberg, G, Frommolt, P, Abdelhak, S