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  • Urreizti R, Cueto-Gonzalez, Ana Maria, Franco-Valls, Héctor, Mort-Farre, Silvia, Roca N, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Mattia Bosio, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo, Cormand B, Vilageliu L, Opitz, John, Neri, Giovanni, Grinberg-Vaisman DR and Balcells S.

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

    SCIENTIFIC REPORTS . 7: 44138-44138. Number of citations: 25

    [doi:10.1038/srep44138]