Home > A. Molecular pathology > EP300
EP300
MIM.602700 22q13
Monday 21 February 2005
Etiology
germline mutation in the gene EP300 in some Rubinstein-Taybi syndrome (MIM.180849) (also caused by germline mutation in the gene encoding the transcriptional coactivator CREB-binding protein (CREBBP) (MIM.600140))
