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

Human Genetics of Ventricular Septal Defect.

Advances in experimental medicine and biology - 1 Jan 2024

Perrot Andreas, Rickert-Sperling Silke

Abstract excerpt

Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of all cardiac malformations, and occur as isolated CHDs as well as together with other cardiac and extracardiac congenital malformations in individual patients and families. The genetic etiology of VSD is complex and extraordinarily heterogeneous. Chromosomal abnormalities such as...

Read the complete abstract on PubMed

Topics

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

Share to DNA Copy Number Variations
Share to Chromosome Aberrations
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Septal Defects, Ventricular

Share to Mutation

Share to Transcription Factors

Source

Identifiers

PMID: 38884729
DOI: 10.1007/978-3-031-44087-8_27

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Human Genetics of Ventricular Septal Defect.PMID 38884729Read ↗

Novel GATA4 mutations in patients with congenital ventricular septal defects.Semantic proximity Read ↗

Human Genetics of Atrioventricular Septal Defect.Semantic proximity Read ↗

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population.Semantic proximity Read ↗

Genetics of Congenital Heart DiseaseSemantic proximity Read ↗

A novel GATA4 mutation responsible for congenital ventricular septal defects.Semantic proximity Read ↗

Human Genetics of Atrial Septal Defect.Semantic proximity Read ↗

Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population.Semantic proximity Read ↗

Human Genetics of Congenital Heart Defects.Semantic proximity Read ↗

A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect.Semantic proximity Read ↗

What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?Semantic proximity Read ↗

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.Semantic proximity Read ↗

New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia.Semantic proximity Read ↗

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