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Article

Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.

American journal of medical genetics. Part A - 1 Jul 2014

Tzeng Michael, du Souich Christèle, Cheung Helen Wing-Hong, Boerkoel Cornelius F

Abstract excerpt

Coffin-Siris Syndrome (CSS) is an intellectual disability disorder caused by mutation of components of the SWI/SNF chromatin-remodeling complex. We describe the evolution of the phenotypic features for a male patient with CSS from birth to age 7 years and 9 months and by review of reported CSS patients, we expand the phenotype to include neonatal and infantile hypertonia and upper airway obstruction. The...

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Source

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Identifiers

PMID: 24700502
DOI: 10.1002/ajmg.a.36533
PMCID: PMC5671763

Genes

SMARCA4

Variants

Provenance

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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