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

Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain.

American journal of medical genetics. Part A - 1 Dec 2025

Mastromoro Gioia, Traversa Alice, Guadagnolo Daniele, Putotto Carolina, Caputo Viviana, Gnazzo Maria, Novelli Antonio, Ventriglia Flavia, Marino Bruno, Pizzuti Antonio

Abstract excerpt

Non-syndromic atrioventricular canal (AVC) occurs in ∼1/1000 livebirths and most of them are considered sporadic cases or the result of multifactorial inheritance. We report on a fetus diagnosed with non-syndromic AVC, whose mother showed interatrial septal tissue redundancy and slight ascending aortic ectasia. Trio-based exome sequencing (ES), performed during the pregnancy, detected the maternally inherited...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Pedigree

Share to Phenotype

Share to Pregnancy

Share to T-Box Domain Proteins

Share to Transcriptional Activation

Source

Identifiers

PMID: 40719322
DOI: 10.1002/ajmg.a.64200

Genes

TBX20

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

Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain.PMID 40719322Read ↗

Chromosomal Location and Identification of TBX20 as a New Gene Responsible for Familial Bicuspid Aortic ValveSemantic proximity Read ↗

TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus.Semantic proximity Read ↗

Familial cardiac septal defect due to a novel nine-base deletion in TBX20.Semantic proximity Read ↗

A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect.Semantic proximity Read ↗

TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant.Semantic proximity Read ↗

A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.Semantic proximity Read ↗

Novel and functional sequence variants within the TBX2 gene promoter in ventricular septal defects.Semantic proximity Read ↗

Upregulation of TBX1 by genetic variants are associated with human congenital heart diseaseSemantic proximity Read ↗

A New TBX5 Loss-of-Function Mutation Contributes to Congenital Heart Defect and Atrioventricular BlockSemantic proximity Read ↗

TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.Semantic proximity Read ↗

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

TBX20 loss-of-function mutation contributes to double outlet right ventricle.Semantic proximity Read ↗

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