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Article

Rubinstein-Taybi syndrome (CREBBP, EP300).

European journal of human genetics : EJHG - 1 Jan 2011

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

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Topics

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Share to CREB-Binding Protein
Share to E1A-Associated p300 Protein
Share to CREBBP gene
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20664634
DOI: 10.1038/ejhg.2010.124
PMCID: PMC3039496

Genes

CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rubinstein-Taybi syndrome (CREBBP, EP300).PMID 20664634Read ↗

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.Semantic proximity Read ↗

Rubinstein-Taybi syndrome: clinical and molecular overview.Semantic proximity Read ↗

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.Semantic proximity Read ↗

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGHSemantic proximity Read ↗

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.Semantic proximity Read ↗

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation.Semantic proximity Read ↗

Rubinstein-Taybi because of a novel EP300 mutation with novel clinical findings.Semantic proximity Read ↗

Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.Semantic proximity Read ↗

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Semantic proximity Read ↗

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.Semantic proximity Read ↗

Epigenetic factors in intellectual disability: the Rubinstein-Taybi syndrome as a paradigm of neurodevelopmental disorder with epigenetic origin.Semantic proximity Read ↗

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.Semantic proximity Read ↗

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