1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes - Molfetta, Greice Andreotti de; Ferreira, Cristiane Ayres; Vidal, Daniel Onofre; Giuliani, Liane de Rosso; Maldonado, Maria José; Silva Júnior, Wilson Araújo da (BMC Medical Genetics, 2012)