ArticleCureus2022
Holt-Oram Syndrome: An Incidental Diagnosis.
Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.Journal of cardiothoracic surgery · 2026Article
- Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.Global medical genetics · 2025Article
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Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Holt-Oram syndrome is a rare autosomal dominant disorder which occurs because of mutations in the TBX5 genes. Most notable manifestations include musculoskeletal deformities, predominantly affecting the upper limbs, and congenital heart defects. Presentation could be multifaceted leading to delay in diagnosis. We describe an interesting incidental diagnosis of Holt-Oram syndrome in a young female adult who accompanied her son to the clinic. He had undergone closure of both atrial septal defect (ASD) and patent ductus arteriosus (PDA) in his infancy. She reported progressive exertional dyspnoea, reduced exercise tolerance, and palpitations; incidentally, she was noted to have right upper limb deformities. These findings prompted further evaluation and thereafter, resulted in a diagnosis of Holt-Oram syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.