Lindgren, A.M., Hoyos, T., Talkowski, M.E., Hanscom, C., Blumenthal, I., Chiang, C., Ernst, C., Pereira, S., Ordulu, Z., Clericuzio, C., Drautz, J.M., Rosenfeld, J.A., Shaffer, L.G., Velsher, L., Pynn, T., Vermeesch, J., Harris, D.J., Gusella, J.F., Liao, E.C., and Morton, C.C. (2013) Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Human genetics. 132(5):537-552
|
|
|
