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: clinical and molecular description of 78 patients with TBX5 variants

14 Dec 2018

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Congenital Heart Disease Studies
Share to Tracheal and airway disorders

Source

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

Identifiers

PMID: 30552424
DOI: 10.1038/s41431-018-0303-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 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

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variantsPMID 30552424Read ↗

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

Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.Semantic proximity Read ↗

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

Molecular characterization of a deep intronic TBX5 variant in a familial case of Holt-Oram syndromeSemantic proximity Read ↗

The human TBX5 gene mutation database.Semantic proximity Read ↗

Novel TBX5 mutations in patients with Holt-Oram syndrome.Semantic proximity Read ↗

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

Identification of new mutations in the TBX<i>5</i> gene in patients with Holt-Oram syndromeSemantic proximity Read ↗

Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome.Semantic proximity Read ↗

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndromeSemantic proximity Read ↗

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

Causes of clinical diversity in human TBX5 mutations.Semantic proximity Read ↗

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