Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects

por Görlacher, Marlen, Panagiotou, Eleftheria, Himmelreich, Nastassja, Hüllen, Andreas, Beedgen, Lars, Dimitrov, Bianca, Geiger, Virginia, Zielonka, Matthias, Peters, Verena, Strahl, Sabine, Vázquez-Jiménez, Jaime, Kerst, Gunter, Thiel, Christian
Publicado 2020