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Article

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

American journal of medical genetics. Part A - 1 May 2007

Tseng Yu-Ru, Su Yi-Ning, Lu Frank Leigh, Jeng Suh-Fang, Hsieh Wu-Shiun, Chen Chien-Yi, Chou Hung-Chieh, Peng Steven Shinn-Forng

Abstract excerpt

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Share to Abnormalities, Multiple
Share to TBX5 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Respiratory Distress Syndrome, Newborn

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Source

Identifiers

PMID: 17366586
DOI: 10.1002/ajmg.a.31672

Genes

TBX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene.PMID 17366586Read ↗

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: clinical and molecular description of 78 patients with TBX5 variantsSemantic proximity Read ↗

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

Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.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 presenting as agenesis of the left pericardium.Semantic proximity Read ↗

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.Semantic 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 ↗

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

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

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

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