title: Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
authors.affiliation: German Aorta Centre of Hamburg at the Centre of Cardiology and Cardiovascular Surgery of the University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Yskert
authors.initials: Y
authors.lastname: von Kodolitsch
authors.affiliation: Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Kutsche
mesh_terms: D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*
chemical_list: D008840:Microfilament Proteins