Rubinstein-Taybi syndrome

Definition:

Rubinstein-Taybi syndrome is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the syndrome.

References:

[1]. F Petrij, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 1995 Jul 27;376(6538):348-51. [Content Brief]

[2]. Jeroen H Roelfsema, et al. Rubinstein-Taybi syndrome: clinical and molecular overview. Expert Rev Mol Med. 2007 Aug 20;9(23):1-16. [Content Brief]

[3]. Oliver Bartsch, et al. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005 Sep;117(5):485-93. [Content Brief]

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