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Article

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2014

Kosho Tomoki, Miyake Noriko, Carey John C

Abstract excerpt

This issue of Seminars in Medical Genetics, American Journal of Medical Genetics Part C investigates the human diseases caused by mutations in the BAF complex (also known as the mammalian SWI/SNF complex) genes, particularly focusing on Coffin-Siris syndrome (CSS). CSS is a rare congenital malformation syndrome characterized by developmental delay or intellectual disability (ID), coarse facial appearance, feeding...

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Source

Identifiers

PMID: 25169878
DOI: 10.1002/ajmg.c.31415

Genes

ADNP
PHF6
SMARCA2
SMARCA4
SMARCB1
SMARCE1
SOX11

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.PMID 25169878Read ↗

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