Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Bitten Schönewolf-Greulich^*, Anne Marie Bisgaard, Morten Dunø, Cathrine Jespersgaard, Mette Rokkjær, Lars K. Hansen, Eirini Tsoutsou, Christalena Sofokleous, Meral Topcu, Simran Kaur, Nicole J. Van Bergen, Karen Brøndum-Nielsen, Martin J. Larsen, Kristina P. Sørensen, John Christodoulou, Christina R. Fagerberg, Zeynep Tümer