Rubinstein-Taybi syndrome: clinical and molecular overview.

doi:10.1017/S1462399407000415

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Article

Rubinstein-Taybi syndrome: clinical and molecular overview.

Expert reviews in molecular medicine - 20 Aug 2007

Roelfsema Jeroen H, Peters Dorien J M

Abstract excerpt

Rubinstein-Taybi syndrome is characterised by mental retardation, growth retardation and a particular dysmorphology. The syndrome is rare, with a frequency of approximately one affected individual in 100,000 newborns. Mutations in two genes - CREBBP and EP300 - have been identified to cause the syndrome. These two genes show strong homology and encode histone acetyltransferases (HATs), which are transcriptional...

Topics

Animals
CREB-Binding Protein
Chromosomes
E1A-Associated p300 Protein
Humans
Mutation
Neoplasms
Rubinstein-Taybi Syndrome

Source

Open in PubMed

Identifiers

PMID: 17942008
DOI: 10.1017/S1462399407000415

Genes

CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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