ArticleCase reports in pediatrics2017
A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team.
Article in Case reports in pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 20 citations in OpenAlex.
- High-Throughput Genomics Identify NovelInternational journal of molecular sciences · 2024Article
- Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.BMC pediatrics · 2023Article
- A novel large in-frameCold Spring Harbor molecular case studies · 2022Article
- Extracorporeal membrane oxygenation after prosthetic valve replacement in a child with neonatal Marfan syndrome: a case report.European heart journal. Case reports · 2022Article
- Marfan syndrome.Nature reviews. Disease primers · 2021Review
- Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report.Medicine · 2021Article
- Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.Scientific reports · 2021Article
- Severe aortic root dilatation in infantile Marfan syndrome.Proceedings (Baylor University. Medical Center) · 2019Article
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
Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (
Identifiers
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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.