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Article

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.

Genes - 19 Jun 2021

Vasko Ashley, Drivas Theodore G, Schrier Vergano Samantha A

Abstract excerpt

Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ system anomalies. Genes in the BRG1(BRM)-associated factors (BAF, Brahma associated factor) complex have been shown to be causative, including ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11, and SOX4. In order to describe...

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Identifiers

PMID: 34205270
DOI: 10.3390/genes12060937
PMCID: PMC8233770

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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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