Marfan syndrome
SaudiVarKB evidence summary derived from retained literature mentions.
19Phenotype mentions
19Publications
7Associated gene records
1Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.1402A>G | c.1402A>G | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 1 | 1 |
| Population record | — | 1 | 1 |
| Saudi Arabia | Cohort 1 | 1 | 1 |
| Population record | Cohort 1 | 1 | 1 |
| Population record | Cohort 53 | 1 | 1 |
| Population record | Cohort 353 | 1 | 1 |
| Population record | Cohort 82 | 1 | 1 |
| Population record | Cohort 149 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 17 | 1 | 1 |
Supporting publications
19 records- 2026PREVALENCE, RISK FACTORS, AND OUTCOMES OF RHEGMATOGENOUS RETINAL DETACHMENTS REPAIR IN MARFAN SYNDROME.Retina (Philadelphia, Pa.)1 mentions
- 2025Insights on obstetric outcomes in pregnant individuals with Marfan Syndrome: evidence from the National Inpatient Sample.Minerva obstetrics and gynecology1 mentions
- 2025Pregnancy outcomes in women with heritable thoracic aortic disease: data from the EORP ESC registry of pregnancy and cardiac disease (ROPAC) III.European heart journal. Quality of care & clinical outcomes1 mentions
- 2025Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.Genes1 mentions
- 2024Neurotrophic Keratopathy in Marfan Syndrome Patient After Micropulse Transscleral Cyclophotocoagulation: A Call for Risk Stratification.The American journal of case reports1 mentions
- 2022Oral Health Status in Marfan Syndrome: A Systematic Review and Meta-Analysis of 353 Cases.International journal of environmental research and public health1 mentions
- 2021Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.Genes1 mentions
- 2020Comparison of Evolution of Aortic Root Dilation and Ghent Criteria in Preadolescents and Adolescents with and without Marfan Syndrome.The Journal of pediatrics1 mentions
- 2019Endovascular Trapping of Large Cervical Carotid Pseudoaneurysm in Marfan Syndrome Presenting with Progressive Respiratory Distress.World neurosurgery1 mentions
- 2019Imaging of Thoracic Wall Abnormalities.Korean journal of radiology1 mentions
- 2017A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2017Oral manifestations of a rare variant of Marfan syndrome.Clinical case reports1 mentions
- 2015Inferior vena cava stenosis: Echocardiographic diagnosis in Marfan syndrome.Global cardiology science & practice1 mentions
- 2014Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1 mentions
- 2013Mutations in LRPAP1 are associated with severe myopia in humans.American journal of human genetics1 mentions
- 2013Retrospective review of visual outcome in operated lens subluxation.Saudi medical journal1 mentions
- 2010Marfan syndrome and focal segmental glomerulosclerosis: a novel association.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2007ICVTS on-line discussion A. Women with Marfan syndrome.Interactive cardiovascular and thoracic surgery1 mentions
- 2003Obstetric and gynecologic complications in women with Marfan syndrome.The Journal of reproductive medicine1 mentions