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

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.

Cardiology in the young - 1 Aug 2015

Jhang Won Kyoung, Lee Beom Hee, Kim Gu-Hwan, Lee Jin-Ok, Yoo Han-Wook

Abstract excerpt

BACKGROUND: Holt-Oram syndrome is characterised by CHD and limb anomalies. Mutations in TBX5 gene, encoding the T-box transcription factor, are responsible for the development of Holt-Oram syndrome, but such mutations are variably detected in 30-75% of patients. METHODS: Clinically diagnosed eight Holt-Oram syndrome patients from six families were evaluated the clinical characteristics, focusing on the cardiac...

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 GATA4 Transcription Factor

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Heart Septal Defects, Atrial

Share to Homeobox Protein Nkx-2.5

Share to Homeodomain Proteins

Share to T-Box Domain Proteins

Share to Upper Extremity Deformities, Congenital

Source

Identifiers

PMID: 25216260
DOI: 10.1017/S1047951114001656

Genes

TBX5
GATA4
SALL4

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.PMID 25216260Read ↗

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

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

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

Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.Semantic proximity Read ↗

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.Semantic proximity Read ↗

TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.Semantic proximity Read ↗

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

TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.Semantic proximity Read ↗

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

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

A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis.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 ↗

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