{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T07:28:52Z","timestamp":1767770932554},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,12,4]],"date-time":"2013-12-04T00:00:00Z","timestamp":1386115200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:p>We report about 52 pediatric patients of 40 different families with confirmed Marfan syndrome (<jats:styled-content style=\"fixed-case\">MFS<\/jats:styled-content>) in 49 patients and Loeys\u2013Dietz syndrome (<jats:styled-content style=\"fixed-case\">LDS<\/jats:styled-content>) in 3 patients. We found 39 different mutations, 15 of them being novel. Phenotype\u2013genotype correlation in the 49 <jats:styled-content style=\"fixed-case\">MFS<\/jats:styled-content> patients showed that the majority of patients carrying mutations in exons 1\u201321 had ectopic lens (80%). Patients having mutations in exons 23\u201332 had a higher probability of aortic root dilation, in 50% even above a <jats:italic>z<\/jats:italic> score of 3. We found three children with neonatal <jats:styled-content style=\"fixed-case\">MFS<\/jats:styled-content> form, two of them with novel mutations. Of the three <jats:styled-content style=\"fixed-case\">LDS<\/jats:styled-content> patients, only one presented with the typical phenotype of <jats:styled-content style=\"fixed-case\">LDS<\/jats:styled-content> type 1.<\/jats:p>","DOI":"10.1111\/cge.12314","type":"journal-article","created":{"date-parts":[[2013,11,7]],"date-time":"2013-11-07T03:18:38Z","timestamp":1383794318000},"page":"552-557","source":"Crossref","is-referenced-by-count":23,"title":["Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys\u2013Dietz syndrome and phenotype\u2013genotype correlations"],"prefix":"10.1111","volume":"86","author":[{"given":"C.","family":"Pees","sequence":"first","affiliation":[{"name":"Pediatric Marfan Syndrome Outpatient Clinic Medical University Vienna Vienna Austria"},{"name":"Department of Pediatric Cardiology, Pediatric Heart Center Vienna University Children's Hospital Vienna 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