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Article

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

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology - 1 Apr 2022

Sobh Omar, O'Sullivan Robert, Mahoney Maurice J, Kleinman Gary

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

Share to Heart Defects, Congenital

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Identifiers

PMID: 34159885
DOI: 10.1080/01443615.2021.1916895

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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

Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome.PMID 34159885Read ↗

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

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

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

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

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 ↗

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

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

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

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

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.Semantic proximity Read ↗

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