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

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

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

Smith Joshua A, Holden Kenton R, Friez Michael J, Jones Julie R, Lyons Michael J

Abstract excerpt

Recent studies have identified mutations in the ARID1B gene responsible for neurodevelopmental delays, intellectual disability, growth delay, and dysmorphic features. ARID1B encodes a subunit of the BAF chromatin-remodeling complex, and mutations in multiple components of the BAF complex have been implicated as causes of Coffin-Siris syndrome, Nicolaides-Baraitser syndrome, and non-syndromic intellectual...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Amino Acid Substitution

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Dwarfism

Share to Facies

Share to Genes, Dominant

Share to High-Throughput Nucleotide Sequencing

Source

Identifiers

PMID: 27570168
DOI: 10.1002/ajmg.a.37945

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

A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.PMID 27570168Read ↗

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

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodesSemantic proximity Read ↗

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

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.Semantic proximity Read ↗

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.Semantic proximity Read ↗

A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.Semantic proximity Read ↗

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

<i>ARID1B</i>-mediated disorders: Mutations and possible mechanismsSemantic proximity Read ↗

The ARID1B phenotype: what we have learned so far.Semantic proximity Read ↗

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

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

ARID1B damaging variants from more than one million genomes, cause human diseases by impairing protein-protein interactions, stability, and regulationSemantic proximity Read ↗

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