{
  "abstract": "In 2010, the medical community welcomed the revised Ghent nosology for Marfan syndrome (MFS), a genetic disorder affecting connective tissue, which was published in the Journal of Medical Genetics.1 This update aimed to enhance diagnostic precision by emphasising cardinal features such as aortic root aneurysm, ectopia lentis and incorporating molecular genetic testing. Over the past 15 years, numerous studies have assessed the efficacy of these criteria, highlighting both their strengths and areas for improvement. By a variety of objective metrics, the revised MFS nosology has had, as intended, an important impact in the field, including greater diagnostic specificity, clinical and research utility and patient satisfaction.",
  "authors": [
    {
      "affiliations": [
        "Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium",
        "Department of Human Genetics, Radboud University Medical Center, Nijmegen, GE, The Netherlands"
      ],
      "name": "Bart Loeys"
    },
    {
      "affiliations": [
        "Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium"
      ],
      "name": "Reihaneh Asadi"
    },
    {
      "affiliations": [
        "Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium"
      ],
      "name": "Eline Vanaken"
    },
    {
      "affiliations": [
        "McKusick-Nathans Department of Genetic Medicine, JHMI/HHMI, Baltimore, Maryland, USA"
      ],
      "name": "Harry Dietz"
    }
  ],
  "title": "Six at Sixty. The revised Ghent nosology for Marfan syndrome turns 15 – what we have gained, what we have missed",
  "uid": "3e0b6a40-7b82-55cb-a415-4a9a30e727da"
}