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Article

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

Journal of cardiothoracic surgery - 1 Mar 2026

Liu Xuechen, Yang Lei, Cui Jian, Liao Mengqian, Hou Zonghui, Zhao Mengqi, Wang Lianyi

Abstract excerpt

BACKGROUND: Holt-Oram syndrome, also known as atrio-digital syndrome, is a rare autosomal dominant genetic disorder primarily characterized by upper limb malformations and congenital heart defects, associated with mutations in the TBX5 gene. Diagnosis is typically based on clinical presentation, and the prognosis for affected individuals is closely related to the severity of cardiac involvement. Our study aims to...

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

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Source

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Identifiers

PMID: 41764505
DOI: 10.1186/s13019-026-03913-4
PMCID: PMC13059588

Genes

TBX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

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Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.PMID 41764505Read ↗

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