论文信息 - A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes - 字舞流文

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

J. Opitz | B. Cormand | J. Hecht | S. Ossowski | G. Neri | E. Tizzano | L. Cozzuto | Mattia Bosio | Julia Ponomarenko | D. Grinberg | S. Balcells | R. Urreizti | M. Montfort | L. Vilageliu | Neus Roca-Ayats | Carlos Company | A. Cueto-González | Héctor Franco-Valls | Sílvia Mort-Farre | J. M. Opitz