1. The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Issue 3 (24th December 2019) Authors: Yigit, Gökhan; Saida, Ken; DeMarzo, Danielle; Miyake, Noriko; Fujita, Atsushi; Yang Tan, Tiong; White, Susan M.; Wadley, Alexandrea; Toliat, Mohammad R.; Motameny, Susanne; Franitza, Marek; Stutterd, Chloe A.; Chong, Pin F.; Kira, Ryutaro; Sengoku, Toru; Ogata, Kazuhiro; Guillen Sacoto, Maria J.;... Journal: Human mutation Issue: Volume 41:Issue 3(2020) Page Start: 591 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗