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

Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery.

Cardiology in the young - 1 Jun 2011

Vianna Caio B, Miura Nana, Pereira Alexandre C, Jatene Marcelo B

Abstract excerpt

The Holt-Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged....

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 TBX5 gene
Share to Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Septal Defects, Atrial

Share to Mutation

Share to Radiography

Share to T-Box Domain Proteins

Share to Upper Extremity Deformities, Congenital

Source

Identifiers

PMID: 21272410
DOI: 10.1017/S1047951111000072

Genes

TBX5

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

Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery.PMID 21272410Read ↗

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.Semantic proximity Read ↗

[Holt-Oram syndrome: characterization of a novel mutation].Semantic proximity Read ↗

Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene.Semantic proximity Read ↗

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

TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.Semantic proximity Read ↗

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.Semantic proximity Read ↗

Current advances in Holt-Oram syndrome.Semantic proximity Read ↗

Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome.Semantic 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 ↗

Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation.Semantic proximity Read ↗

A rare case of isolated right atrial enlargement and TBX5 mutation associated with Holt-Oram syndrome.Semantic proximity Read ↗

Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.Semantic proximity Read ↗

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