A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

by De Molfetta Greice Andreotti, Felix Temis Maria, Riegel Mariluce, Ferraz Victor Evangelista de Faria, Pina Neto João Monteiro de
Published 2002-01-01

1031-1034delTAAC (Leu125Stop): a novel familial <it>UBE3A</it> mutation causing Angelman syndrome in two siblings showing distinct phenotypes

by De Molfetta Greice Andreotti, Ferreira Cristiane Ayres, Vidal Daniel Onofre, de Rosso Giuliani Liane, Maldonado Maria José, Silva Wilson Araujo
Published 2012-12-01