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Article

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

American journal of medical genetics. Part A - 1 Aug 2016

Zarate Yuri A, Bhoj Elizabeth, Kaylor Julie, Li Dong, Tsurusaki Yoshinori, Miyake Noriko, Matsumoto Naomichi, Phadke Shubha, Escobar Luis, Irani Afifa, Hakonarson Hakon, Schrier Vergano Samantha A

Abstract excerpt

Coffin-Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27264197
DOI: 10.1002/ajmg.a.37722
PMCID: PMC5870868

Genes

SMARCE1
SMARCA2
SMARCA4
SMARCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

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SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.PMID 27264197Read ↗

Numerous BAF complex genes are mutated in Coffin-Siris syndrome.Semantic proximity Read ↗

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.Semantic proximity Read ↗

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

First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendationsSemantic proximity Read ↗

ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals.Semantic proximity Read ↗

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.Semantic proximity Read ↗

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.Semantic proximity Read ↗

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.Semantic proximity Read ↗

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability DisordersSemantic proximity Read ↗

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.Semantic proximity Read ↗

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.Semantic proximity Read ↗

Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.Semantic proximity Read ↗

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