Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome

Author(s):
Menke, L.A.; Gardeitchik, T.; Hammond, P.; Heimdal, K.R.; Houge, G.; Hufnagel, S.B.; Ji, J.L.; Johansson, S.; Kant, S.G.; Kinning, E.; Leon, E.L.; Newbury-Ecob, R.; Paolacci, S.; Pfundt, R.; Ragge, N.K.; Rinne, T.; Ruivenkamp, C.; Saitta, S.C.; Sun, Y.; Tartaglia, M.; Terhal, P.A.; Essen, A.J. van; Vigeland, M.D.; Xiao, B.; Hennekam, R.C.; DDD Study
Published
2018
Publication type
Article / Letter to editor
CREBBPCBPEP300exome sequencinggenotype-phenotype correlationintellectual disability
Date issued
2018-04-30
Language
English
Is part of
American Journal of Medical Genetics Part A (2018), Vol. 176, no. 4, p. 862-876
hdl
1887/95966
doi
10.1002/ajmg.a.38626