ArticleMolecular syndromology2012
Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.
Article in Molecular syndromology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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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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Who cites it
17 citing papers in PubMed, 43 citations in OpenAlex.
- Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.Molecular genetics & genomic medicine · 2023Review
- Pediatric hallux valgus: An overview of history, examination, conservative, and surgical management.Paediatrics & child health · 2022Review
- Rare Variants and Polymorphisms ofFrontiers in genetics · 2022Article
- Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.American journal of medical genetics. Part A · 2021Article
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- Article
- The Pathophysiological Significance of Fibulin-3.Biomolecules · 2020Review
- Genetic Evaluation, Familial Screening and Exercise.Arquivos brasileiros de cardiologia · 2017Review
- Shprintzen-Goldberg syndrome: a rare disorder.The Pan African medical journal · 2016Review
- Marfan syndrome: current perspectives.The application of clinical genetics · 2016Review
- Open repair of an aortic aneurysm in a patient with Loeys-Dietz syndrome using Gore hybrid vascular branch grafts.Journal of vascular surgery cases · 2015Article
- A novel mutation in fibrillin-1 gene identified in a Chinese family with marfan syndrome.International journal of clinical and experimental medicine · 2015Article
- A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features.Molecular syndromology · 2014Article
- Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.Molecular vision · 2014Article
- Aptamers and their potential to selectively target aspects of EGF, Wnt/β-catenin and TGFβ-smad family signaling.International journal of molecular sciences · 2013Review
- α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies.Brazilian journal of cardiovascular surgeryReview
- Ocular Manifestations in Patients with Sensorineural Hearing Loss.Journal of ophthalmic & vision researchReview
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissue characterized by early development of thoracic aortic aneurysms/dissections together with symptoms of the ocular and skeletal systems. While most patients/families with a classic phenotypic expression of MFS harbour mutations in the gene encoding fibrillin-1 (FBN1), genetic studies of the recent years revealed that the clinical features, as well as the mutated genes, show a high degree of overlap between MFS and other connective tissue diseases (e.g. Loeys-Dietz syndrome, Ehlers-Danlos syndrome, familial thoracic aneurysms and dissections and others). We summarize herein the current knowledge about the wide spectrum of differential diagnoses and their genetic background as well as novel therapeutic approaches in order to provide appropriate counselling and clinical follow-up for the patients.
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