Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.

American journal of medical genetics. Part A - 1 Nov 2017

Van Paemel Ruben, De Bruyne Pauline, van der Straaten Saskia, D'hondt Marleen, Fränkel Urlien, Dheedene Annelies, Menten Björn, Callewaert Bert

Abstract excerpt

We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. However, our patient showed overlapping features with Nicolaides-Baraitser syndrome and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomal Proteins, Non-Histone
Share to Face

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Foot Deformities, Congenital

Share to Hand Deformities, Congenital

Share to Hypotrichosis

Share to Micrognathism

Source

Identifiers

PMID: 28884947
DOI: 10.1002/ajmg.a.38407

Genes

ARID2

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.PMID 28884947Read ↗

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

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.Semantic proximity Read ↗

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

Mutations in ARID2 are associated with intellectual disabilities.Semantic proximity Read ↗

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

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.Semantic proximity Read ↗

Phenotypic and Molecular Spectrum of Patients With Switch/sucrose Nonfermenting Complex-related Intellectual Disabilities in KoreaSemantic proximity Read ↗

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.Semantic proximity Read ↗

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.Semantic proximity Read ↗

A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.Semantic proximity Read ↗

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

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.