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

Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Marlen Görlacher, Eleftheria Panagiotou, Nastassja Himmelreich, Andreas Hüllen, Lars Beedgen, Bianca Dimitrov, Virginia Geiger, Matthias Zielonka, Verena Peters, Sabine Strahl, Jaime Vázquez-Jiménez, Gunter Kerst, Christian Thiel

Source: Molecular Genetics and Metabolism Reports - November 8, 2020 Category: Genetics & Stem Cells Source Type: research