{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T18:25:03Z","timestamp":1761675903622},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,12,7]],"date-time":"2011-12-07T00:00:00Z","timestamp":1323216000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recently, a revised Ghent nosology has been established for the diagnosis of Marfan syndrome (MFS) that puts more weight on the aortic root aneurysm and ectopia lentis. We compared the application of the Ghent and revised Ghent nosologies in adult Korean patients for whom there is suspicion of MFS. From January 1995 to June 2010, we enrolled 106 patients older than 20 years for whom there was suspicion of MFS, and who had undergone genetic analysis of the fibrillin\u20101 gene (<jats:italic>FBN1<\/jats:italic>). Of 106 patients, 86 patients (81%) fulfilled the criteria of the Ghent nosology, and 84 patients (79%) met the criteria of the revised Ghent nosology. The two patients who met the Ghent nosology criteria, but not the criteria of the revised Ghent nosology were diagnosed with Loeys\u2013Dietz syndrome and MASS phenotype. The level of agreement between both nosologies was very high (\u03ba\u2009=\u20090.94, 95% confidence interval: 0.86 to 1.0). Marfan\u2010like syndromes were diagnosed in 30% (6\/20 patients) with negative Ghent and revised Ghent criteria and no <jats:italic>FBN1<\/jats:italic> mutations. These results suggest that adult Korean patients who fulfill the old Ghent criteria almost all fulfill the new criteria for the diagnosis of MFS. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34392","type":"journal-article","created":{"date-parts":[[2011,12,7]],"date-time":"2011-12-07T21:48:28Z","timestamp":1323294508000},"page":"989-995","source":"Crossref","is-referenced-by-count":24,"title":["A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population"],"prefix":"10.1002","volume":"158A","author":[{"given":"Jeong Hoon","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyejin","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin Yi","family":"Jang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ju 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