ArticleJournal of pediatric genetics2019
Early-Onset Marfan Syndrome: A Case Series.
Article in Journal of pediatric genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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.
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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
7 citing papers in PubMed, 13 citations in OpenAlex.
- Open Thoracoabdominal Aortic Replacement in a Long-Term Survivor of Early-Onset Marfan Syndrome.Surgical case reports · 2026Article
- Surgical Intervention in Pediatric Marfan Syndrome: A Multiinstitutional Study.World journal for pediatric & congenital heart surgery · 2025Article
- High-Throughput Genomics Identify NovelInternational journal of molecular sciences · 2024Article
- Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.BMC pediatrics · 2023Article
- Early-onset Marfan syndrome with a novel missense mutation: A case report.Journal of cardiology cases · 2023Article
- Transseptal approach for catheter ablation of left-sided accessory pathways in children with Marfan syndrome: A case report.World journal of clinical cases · 2023Article
- Cardiomyopathy in Genetic Aortic Diseases.Frontiers in pediatrics · 2021Review
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
Mutations in fibrillin 1 cause Marfan syndrome (MFS), an autosomal dominant disorder of the connective tissue, with multisystem manifestations. In early-onset MFS, the physical characteristics are expressed much earlier than the classical MFS. Those affected by this form generally have their mutations restricted to the gene "hotspot" region of exons 24 to 32. Historically, affected individuals usually die within the first few years of life due to heart failure secondary to severe valvular insufficiency. We report three patients with early-onset MFS, whose clinical evolution has been remarkably positive, when compared with other reported cases in the literature.
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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.