Publication
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes
Roser Urreizti, Anna Maria Cueto-Gonzalez, Héctor Franco-Valls, Sílvia Mort-Farre, Neus Roca-Ayats, Julia Ponomarenko, Luca Cozzuto, Carlos Company, Mattia Bosio, Stephan Ossowski, Magda Montfort, Jochen Hecht, Eduardo F. Tizzano, Bru Cormand, Lluïsa Vilageliu, John M. Opitz, Giovanni Neri, Daniel Grinberg, Susana Balcells
Scientific Reports, March 2017, Springer Science + Business Media
DOI: 10.1038/srep44138