Journal Article
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
Amelia M. Lindgren; Tatiana Hoyos; Michael E. Talkowski; Carrie Hanscom; Ian Blumenthal; Colby Chiang; Carl Ernst; Shahrin Pereira; Zehra Ordulu; Carol Clericuzio; Joanne M. Drautz; Jill A. Rosenfeld; Lisa G. Shaffer; Lea Velsher; Tania Pynn; Joris Vermeesch; David J. Harris; James F. Gusella; Eric C. Liao; Cynthia C. Morton
Human Genetics · Vol. 132, Issue 5 · pp. 537-552 · 2013