Rubinstein-Taybi syndrome (CREBBP, EP300)

Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.124. Epub 2010 Jul 28.

Authors

Martine van Belzen¹, Oliver Bartsch, Didier Lacombe, Dorien J M Peters, Raoul C M Hennekam

Affiliation

¹ Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

CREB-Binding Protein / genetics
E1A-Associated p300 Protein / genetics
Humans
Mutation
Predictive Value of Tests
Rubinstein-Taybi Syndrome / diagnosis
Rubinstein-Taybi Syndrome / genetics*
Sensitivity and Specificity

Substances

CREB-Binding Protein
CREBBP protein, human
E1A-Associated p300 Protein
EP300 protein, human