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Marfan Syndrome

Marfan Syndrome diagram by Lee et al, PLOS One
Lee et al, PLOS One

Marfan syndrome is an autosomal dominant disorder of connective tissue with abnormal features in the heart, the eye, and the skeleton. It is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue. Discover the latest research on Marfan syndrome here.

Top 20 most recent papers
Journal of the American College of Cardiology

Aortic Dissection Risk in Marfan Syndrome

Journal of the American College of CardiologyMarch 5, 2020
Mary J Roman, Richard B Devereux
Bone

Increased fracture rate in children and adolescents with Marfan syndrome

BoneMarch 31, 2020
Giuliana TrifiròAlessandro Pini
1
The Journal of Hand Surgery

Ulnar Artery Aneurysm as a Late Sequela of Marfan Syndrome

The Journal of Hand SurgeryMarch 28, 2020
Christopher J GoodenoughGrigorios A Lamaris
American Journal of Ophthalmology Case Reports

Polymicrobial infection confined to Ahmed glaucoma shunt

American Journal of Ophthalmology Case ReportsMarch 21, 2020
Jessica C LeeKaranjit S Kooner
Human Genetics

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

Human GeneticsJanuary 26, 2020
Pauline ArnaudLaurence Faivre
Philosophy, Ethics, and Humanities in Medicine : PEHM

Heart in art: cardiovascular diseases in novels, films, and paintings

Philosophy, Ethics, and Humanities in Medicine : PEHMFebruary 14, 2020
Ad A KapteinMartin J Schalij
Journal of the American College of Cardiology

Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome

Journal of the American College of CardiologyMarch 5, 2020
Olivier MilleronGuillaume Jondeau
31
2
Vascular Medicine

Diagnostic approach and management of genetic aortopathies

Vascular MedicineFebruary 1, 2020
Rohan BhandariYogendra Kanthi
13
The Journal of Thoracic and Cardiovascular Surgery

Surgery for type A aortic dissection in patients with cerebral malperfusion: Results from the International Registry of Acute Aortic Dissection

The Journal of Thoracic and Cardiovascular SurgeryJanuary 22, 2020
Ibrahim SultanThomas G Gleason
8
1
Cardiovascular Research

Macrophage lineages in heart valve development and disease

Cardiovascular ResearchMarch 15, 2020
Andrew J KimKatherine E Yutzey
Spine Deformity

Growth-friendly Instrumentation for the Treatment of Early-onset Scoliosis in Marfan Syndrome

Spine DeformityJanuary 25, 2020
Laura BellairePediatric Spine Study Group
Molecular Genetics & Genomic Medicine

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

Molecular Genetics & Genomic MedicineJanuary 18, 2020
Aideen M McInerney-LeoEmma L Duncan
3
1

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