Associated Papers
Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.
Shen X et al.
Journal of Translational Medicine, 2025
41331757 (PubMed )
Supplement: 12967_2025_7523_MOESM1_ESM.pdf
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.
Shin JH et al.
European Journal of Human Genetics : Ejhg, 2025
Corneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis.
Huo QY et al.
Investigative Ophthalmology & Visual Science, 2025
40062814 (PubMed )
Supplement: iovs-66-3-23_s003.pdf
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
Baudhuin LM et al.
Journal of Human Genetics, 2015
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
Baudhuin LM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Select a paper to view details