Observational studyMedicine2018
The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.
Observational study in Medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 20 citations in OpenAlex.
- Molecular heterogeneity and diagnostic performance of phenotype-driven multigene panel testing in patients with marfanoid habitus.Journal of applied genetics · 2026Article
- Intrinsic cardiomyopathy in pediatric Marfan syndrome: predictive factors and risk assessments.Pediatric research · 2025Article
- Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies.medRxiv : the preprint server for health sciences · 2025Article
- Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.European journal of pediatrics · 2024Article
- Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2024Article
- Three-Dimensional Characterization of Aortic Root Motion by Vascular Deformation Mapping.Journal of clinical medicine · 2023Article
- Article
- Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.Journal of medical genetics · 2022Article
- Genotype variant screening and phenotypic analysis ofMolecular medicine reports · 2021Article
- Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations.Frontiers in molecular biosciences · 2021Article
- A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome.Acta paediatrica (Oslo, Norway : 1992) · 2020Article
- Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.Molecular genetics & genomic medicine · 2020Article
- Article
- The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective.Biomolecules · 2020Review
- Use of sacubitril/valsartan in Marfan syndrome-related cardiomyopathy: The first case report.Medicine · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are the connective tissue disorders characterized by aortic root aneurysm and/or dissection and various additional features. We evaluated the correlation of these mutations with the phenotypes and determined the clinical applicability of the revised Ghent criteria.The mutation spectrum and phenotypic heterogeneities of the 83 and 5 Korean patients with suspected MFS and LDS were investigated as a retrospective manner. In patients with suspected MFS patients, genetic testing was conducted in half of 44 patients who met the revised Ghent criteria clinically and half of 39 patients who did not meet these criteria.Fibrillin1 gene (FBN1) variants were detected in all the 22 patients (100%) who met the revised Ghent criteria and in 14 patients (77.8%) who did not meet the revised Ghent criteria (P = .0205). Patients with mutations in exons 24-32 were diagnosed at a younger age than those with mutations in other exons. Ectopia lentis was more common in patients with missense mutations than in patients with other mutations. Aortic diameter was greater in patients with missense mutations in cysteine residues than in patients with missense mutations in noncysteine residues. Five LDS patients had either TGFBR1 or TGFBR2 variants, of which 1 patient identified TGFBR1 variant uncertain significance.The revised Ghent criteria had very high clinical applicability for detecting FBN1 variants in patients with MFS and might help in selecting patients with suspected MFS for genetic testing.
Indexed as
Identifiers
What OpenQuestion holds
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.