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Article

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Genes - 24 Jun 2021

Van Gils Julien, Magdinier Frederique, Fergelot Patricia, Lacombe Didier

Abstract excerpt

The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and many additional phenotypical features. It occurs at between 1/100,000 and 1/125,000 births. Two genes are currently known to cause RSTS, CREBBP and EP300, mutated in around 55% and 8% of clinically diagnosed cases, respectively. To...

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Identifiers

PMID: 34202860
DOI: 10.3390/genes12070968
PMCID: PMC8303114

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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