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Article

SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.

Epigenetics - 1 Nov 2012

Santen Gijs W E, Kriek Marjolein, van Attikum Haico

Abstract excerpt

Heterozygous germline mutations in components of switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complexes were recently identified in patients with non-syndromic intellectual disability, Coffin-Siris syndrome and Nicolaides-Baraitser syndrome. The common denominator of the phenotype of these patients is severe intellectual disability and speech delay. Somatic and germline mutations in SWI/SNF...

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Share to Chromatin Assembly and Disassembly
Share to Foot Deformities, Congenital
Share to Genes, Switch

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23010866
DOI: 10.4161/epi.22299
PMCID: PMC3499322

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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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