1. Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies. Issue 11 (22nd July 2019) Authors: Suleiman, Jehan; Riedhammer, Korbinian M.; Jicinsky, Timothy; Mundt, Melinda; Werner, Laurie; Gusic, Mirjana; Burgemeister, Anna L.; Alsaif, Hessa S.; Abdulrahim, Maha; Moghrabi, Nabil N; Nicolas‐Jilwan, Manal; AlSayed, Moeenaldeen; Bi, Weimin; Sampath, Srirangan; Alkuraya, Fowzan S.; El‐Hattab, ... Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 1985 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗