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Article

Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia

7 Jul 2022

Abstract excerpt

Coffin-Siris syndrome (CSS) is an autosomal dominant neurodevelopmental syndrome that can present with a variety of structural birth defects. Pathogenic variants in 12 genes have been shown to cause CSS. Most of these genes encode proteins that are a part of the mammalian switch/sucrose non-fermentable (mSWI/SNF; BAF) complex. An association between genes that cause CSS and congenital diaphragmatic hernia (CDH)...

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Identifiers

PMID: 35796094
DOI: 10.1002/ajmg.a.62889

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic herniaPMID 35796094Read ↗

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