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Article

Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot.

BMC medical genomics - 3 Mar 2022

Sun Hairui, Zhang Siyao, Wang Jingyi, Zhou Xiaoxue, Zhang Hongjia, Yang Huixia, He Yihua

Abstract excerpt

BACKGROUND: Coffin-Siris syndrome-8 (CSS8) is a rare autosomal dominant disorder caused by variants in SMARCC2, a core subunit of the chromatin-remodeling complex BRG1-associated factor (BAF). The clinical characteristics of this disorder have not been entirely determined because of the rarity of clinical reports. The BAF complex plays a crucial role in embryogenesis and cardiac development, and pathogenic...

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Identifiers

PMID: 35241061
DOI: 10.1186/s12920-022-01185-0
PMCID: PMC8895577

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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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