A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

Urreizti, Roser; Cueto-Gonzalez, Anna Maria; Franco-Valls, Héctor; Mort-Farre, Sílvia; Roca-Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort, Magda; Hecht, Jochen; Tizzano, Eduardo F; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana.
Sci Rep; 7: 44138, 2017 03 10.
Artigo em Inglês | MEDLINE | ID: mdl-28281571