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

Menke, L.A.; Gardeitchik, T.; Hammond, P.; Heimdal, K.R.; Houge, G.; Hufnagel, S.B.; ... ; DDD Study (2018)

Article / Letter to editor

• CREBBP
• CBP
• EP300
• exome sequencing
• genotype-phenotype correlation
• intellectual disability

• All authors: 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
• Date: 2018-04-30
• Journal: American Journal of Medical Genetics Part A
• Volume: 176
• Issue: 4
• Pages: 862 - 876
• DOI: doi:10.1002/ajmg.a.38626