Novel truncating PPM1D mutation in a patient with intellectual disability

Autor: Porrmann, Joseph, Rump, Andreas, Hackmann, Karl, Di Donato, Nataliya, Kahlert, Anne-Karin, Wagner, Johannes, Jahn, Arne, Eger, Ines, Flury, Monika, Schrock, Evelin, Tzschach, Andreas, Gieldon, Laura
Zdroj: In European Journal of Medical Genetics January 2019 62(1):70-72
Databáze: ScienceDirect