Associated Papers
Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome.
Capecchi E et al.
Italian Journal of Pediatrics, 2024
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