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Article

Numerous BAF complex genes are mutated in Coffin-Siris syndrome.

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

Miyake Noriko, Tsurusaki Yoshinori, Matsumoto Naomichi

Abstract excerpt

Coffin-Siris syndrome (CSS; OMIM#135900) is a rare congenital anomaly syndrome characterized by intellectual disability, coarse face, hypertrichosis, and absence/hypoplasia of the fifth digits' nails. As the majority of patients are sporadic, an autosomal dominant inheritance model has been postulated. Recently, whole exome sequencing (WES) emerged as a comprehensive analytical method for rare variants. We...

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Source

Identifiers

PMID: 25081545
DOI: 10.1002/ajmg.c.31406

Genes

SMARCB1
SMARCA2
PHF6
SMARCA4
SMARCE1

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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