Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

doi:10.1016/j.ajhg.2018.01.014

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Article

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

American journal of human genetics - 1 Mar 2018

Vasileiou Georgia, Vergarajauregui Silvia, Endele Sabine, Popp Bernt, Büttner Christian, Ekici Arif B, Gerard Marion, Bramswig Nuria C, Albrecht Beate, Clayton-Smith Jill, Morton Jenny, Tomkins Susan, Low Karen, Weber Astrid, Wenzel Maren, Altmüller Janine, Li Yun, Wollnik Bernd, Hoganson George, Plona Maria-Renée, Cho Megan T, Thiel Christian T, Lüdecke Hermann-Josef, Strom Tim M, Calpena Eduardo, Wilkie Andrew O M, Wieczorek Dagmar, Engel Felix B, Reis André

Abstract excerpt

Variants affecting the function of different subunits of the BAF chromatin-remodelling complex lead to various neurodevelopmental syndromes, including Coffin-Siris syndrome. Furthermore, variants in proteins containing PHD fingers, motifs recognizing specific histone tail modifications, have been associated with several neurological and developmental-delay disorders. Here, we report eight heterozygous de novo...

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Identifiers

PMID: 29429572
DOI: 10.1016/j.ajhg.2018.01.014
PMCID: PMC5985265

Genes

DPF2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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