{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T13:46:51Z","timestamp":1764251211109},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,1,22]],"date-time":"2009-01-22T00:00:00Z","timestamp":1232582400000},"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":[[2009,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the gene encoding fibrillin 1 (<jats:italic>FBN1<\/jats:italic>) cause Marfan syndrome (MFS), and related connective tissue disorders. The disease spectrum is wide and while many genotype\u2013phenotype correlations have been reported, few have been consistent. In this study <jats:italic>FBN1<\/jats:italic> was analyzed in 113 patients with MFS or Marfan\u2010like features. Fifty\u2010three mutations were identified in 52 individuals, 41 of which were novel. The mutations comprised 26 missense, 11 splice site, 7 frameshift, 6 nonsense, 1 in\u2010frame deletion, and 2 whole exon deletions. In common with previous studies, genotype\u2013phenotype analysis showed that a <jats:italic>FBN1<\/jats:italic> mutation was more likely to be identified in patients fulfilling Ghent criteria (<jats:italic>P<\/jats:italic>\u2009=\u20090.005) and in those who had ectopia lentis (EL) (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.0001). Other previously reported genotype\u2013phenotype correlations were also considered and a new inverse association between a mutation in exons 59\u201365, and EL emerged (<jats:italic>P<\/jats:italic>\u2009=\u20090.002). \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32593","type":"journal-article","created":{"date-parts":[[2009,1,22]],"date-time":"2009-01-22T19:20:22Z","timestamp":1232652022000},"page":"161-170","source":"Crossref","is-referenced-by-count":32,"title":["Detection of 53 <i>FBN1<\/i> mutations (41 novel and 12 recurrent) and genotype\u2013phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy"],"prefix":"10.1002","volume":"149A","author":[{"given":"C.L.S.","family":"Turner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Emery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.L.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.J.","family":"Howarth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.M.","family":"Yearwood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Cross","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.J.","family":"Duncan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.J.","family":"Bunyan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.F.","family":"Harvey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.C.","family":"Foulds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,1,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9377"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20210"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9207"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32229"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550207.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10249"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1181"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.86.12.1359"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9505"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30068"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/520125"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30979"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2006.0514"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.1.34"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.1997.1.237"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-2-11"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.161.20.2447"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000320)91:3<212::AID-AJMG12>3.0.CO;2-3"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31759"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10113"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20239"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1086\/302582"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2006.11.006"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200582"}],"container-title":["American 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