Associated Papers
NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.
Gentilini D et al.
Plos One, 2019
31536524 (PubMed )
Supplement: pone.0222506.s004.xlsx › Annotation
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
Select a paper to view details