Deficiency for the ubiquitin ligase ube3b in a blepharophimosis-ptosis- intellectual-disability syndrome حسب Basel-Vanagaite, L, Basel-Vanagaite, L, Basel-Vanagaite, L, Basel-Vanagaite, L, Dallapiccola, B, Ramirez-Solis, R, Segref, A, Segref, A, Thiele, H, Edwards, A, Arends, M, Miró, X, White, J, Désir, J, Abramowicz, M, Abramowicz, M, Dentici, M, Lepri, F, Hofmann, K, Hofmann, K, Har-Zahav, A, Ryder, E, Karp, N, Estabel, J, Gerdin, A

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. حسب 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