Rubinstein-Taybi syndrome (CREBBP, EP300).
van Belzen
Martine
M
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bartsch
Oliver
O
Lacombe
Didier
D
Peters
Dorien J M
DJ
Hennekam
Raoul C M
RC
D050882:CREB-Binding Protein / Q000235:genetics; D050881:E1A-Associated p300 Protein / Q000235:genetics; D006801:Humans; D009154:Mutation; D011237:Predictive Value of Tests; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis / Q000235:genetics*; D012680:Sensitivity and Specificity
D050882:CREB-Binding Protein; C494363:CREBBP protein, human; D050881:E1A-Associated p300 Protein; C494360:EP300 protein, human