{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T15:17:06Z","timestamp":1764688626516},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2007,3,7]],"date-time":"2007-03-07T00:00:00Z","timestamp":1173225600000},"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":[[2007,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>FBN2<\/jats:italic>, <jats:italic>FBN1<\/jats:italic>, <jats:italic>TGFBR1<\/jats:italic>, and <jats:italic>TGFBR2<\/jats:italic> were analyzed by direct sequencing in 15 probands with suspected congenital contractural arachnodactyly (CCA). A total of four novel <jats:italic>FBN2<\/jats:italic> mutations were found in four probands (27%, 4\/15), but remaining the 11 did not show any abnormality in either of the genes. This study indicated that <jats:italic>FBN2<\/jats:italic> mutations were major abnormality in CCA, and <jats:italic>TGFBR<\/jats:italic> and <jats:italic>FBN1<\/jats:italic> defects may not be responsible for the disorder. <jats:italic>FBN2<\/jats:italic> mutations were only found at introns 30, 31, and 35 in this study. Thus analysis of a mutational hotspot from exons 22 to 36 (a middle part) of <jats:italic>FBN2<\/jats:italic> should be prioritized in CCA as previously suggested. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31639","type":"journal-article","created":{"date-parts":[[2007,3,7]],"date-time":"2007-03-07T22:35:47Z","timestamp":1173306947000},"page":"694-698","source":"Crossref","is-referenced-by-count":25,"title":["<i>FBN2<\/i>, <i>FBN1<\/i>, <i>TGFBR1<\/i>, and <i>TGFBR2<\/i> analyses in congenital contractural 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