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

6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype.

BMC cardiovascular disorders - 17 Mar 2020

Cheng Andrew, Neufeld-Kaiser Whitney, Byers Peter H, Liu Yajuan J

Abstract excerpt

INTRODUCTION: Hypoplastic left heart syndrome (HLHS) is a rare but devastating congenital heart defect (CHD) accounting for 25% of all infant deaths due to a CHD. The etiology of HLHS remains elusive, but there is increasing evidence to support a genetic cause for HLHS; in particular, this syndrome is associated with abnormalities in genes involved in cardiac development. Consistent with the involvement of...

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 Aortic Valve

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bicuspid Aortic Valve Disease

Share to Chromosome Aberrations

Share to Chromosomes, Human, Pair 6

Share to Haploinsufficiency

Share to Heart Valve Diseases

Share to Heredity

Source

Open in PubMed Open full text

Identifiers

PMID: 32183715
DOI: 10.1186/s12872-020-01404-5
PMCID: PMC7077097

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype.PMID 32183715Read ↗

Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.Semantic proximity Read ↗

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.Semantic proximity Read ↗

Expanding the phenotype of TAB2 variants and literature review.Semantic proximity Read ↗

Haploinsufficiency of TAB2 causes congenital heart defects in humans.Semantic proximity Read ↗

Fetal de novo 6q24.3-q25.1 microdeletion encompassing TAB2 gene associated with small left atrium, growth restriction, and urogenital/anal abnormalities: a case reportSemantic proximity Read ↗

TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.Semantic proximity Read ↗

There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome.Semantic proximity Read ↗

Other genomic disorders and congenital heart diseaseSemantic proximity Read ↗

Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.Semantic proximity Read ↗

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart DiseaseSemantic proximity Read ↗

Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Semantic proximity Read ↗

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.Semantic proximity Read ↗

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