Biallelic variants in YRDC cause a developmental disorder with progeroid features
YRDC 中的双等位基因变异会导致具有早衰特征的发育障碍
期刊:Human Genetics
影响因子:3.8
doi:10.1007/s00439-021-02347-3
Julia Schmidt, Jonas Goergens, Tatiana Pochechueva, Annika Kotter, Niko Schwenzer, Maren Sitte, Gesa Werner, Janine Altmüller, Holger Thiele, Peter Nürnberg, Jörg Isensee, Yun Li, Christian Müller, Barbara Leube, H Christian Reinhardt, Tim Hucho, Gabriela Salinas, Mark Helm, Ron D Jachimowicz, Dagma