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

Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion.

Cardiology in the young - 1 May 2022

Foley Ross, Duignan Sophie, McArdle Linda, Betts David R, Green Andrew, McMahon Colin J

Abstract excerpt

Nicolaides-Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. Cardinal features include intellectual disability, short stature, microcephaly, triangular facies, sparse hair, brachydactyly, prominent interphalangeal joints and seizures. Genetic testing demonstrated a loss within SMARCA2 at 9p24.3 inclusive...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy, Hypertrophic
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Foot Deformities, Congenital

Share to Gene Deletion

Share to Hypotrichosis

Share to Intellectual Disability

Share to Transcription Factors

Source

Identifiers

PMID: 34521483
DOI: 10.1017/S1047951121003826

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion.PMID 34521483Read ↗

New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.Semantic proximity Read ↗

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of <b><i>SMARCA2</i></b> in Three Patients with Nicolaides-Baraitser SyndromeSemantic proximity Read ↗

[Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome].Semantic proximity Read ↗

Phenotype and genotype in Nicolaides-Baraitser syndrome.Semantic proximity Read ↗

Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS.Semantic proximity Read ↗

[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome].Semantic proximity Read ↗

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.Semantic proximity Read ↗

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.Semantic proximity Read ↗

Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot.Semantic proximity Read ↗

Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.Semantic proximity Read ↗

Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission.Semantic proximity Read ↗

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalusSemantic proximity Read ↗

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