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Article

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

Nature genetics - 18 Mar 2012

Santen Gijs W E, Aten Emmelien, Sun Yu, Almomani Rowida, Gilissen Christian, Nielsen Maartje, Kant Sarina G, Snoeck Irina N, Peeters Els A J, Hilhorst-Hofstee Yvonne, Wessels Marja W, den Hollander Nicolette S, Ruivenkamp Claudia A L, van Ommen Gert-Jan B, Breuning Martijn H, den Dunnen Johan T, van Haeringen Arie, Kriek Marjolein

Abstract excerpt

We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing. Array-based copy-number variation (CNV) analysis in 2,000 individuals with intellectual disability revealed deletions encompassing ARID1B in 3 subjects with phenotypes partially overlapping that of CSS. Taken together with published data, these results indicate that haploinsufficiency of...

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PMID: 22426309
DOI: 10.1038/ng.2217

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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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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.PMID 22426309Read ↗

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