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Article

Rubinstein-Taybi Syndrome and Epigenetic Alterations.

Advances in experimental medicine and biology - 1 Jan 2017

Korzus Edward

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder in humans characterized by growth and psychomotor delay, abnormal gross anatomy, and mild to severe mental retardation (Rubinstein and Taybi, Am J Dis Child 105:588-608, 1963, Hennekam et al., Am J Med Genet Suppl 6:56-64, 1990). RSTS is caused by de novo mutations in epigenetics-associated genes, including the cAMP response element-binding protein...

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Identifiers

PMID: 28523540
DOI: 10.1007/978-3-319-53889-1_3
PMCID: PMC6863608

Genes

CREBBP

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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