{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:27:17Z","timestamp":1791296837050,"version":"4.1.0"},"reference-count":27,"publisher":"Hindawi Limited","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":2484,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"Fund for Scientific Research, Flanders"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2009,3]]},"DOI":"10.1002\/humu.20854","type":"journal-article","created":{"date-parts":[[2008,11,13]],"date-time":"2008-11-13T02:45:22Z","timestamp":1226544322000},"page":"334-341","source":"Crossref","is-referenced-by-count":82,"title":["Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature"],"prefix":"10.1155","volume":"30","author":[{"given":"Bert L.","family":"Callewaert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart L.","family":"Loeys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Ficcadenti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sascha","family":"Vermeer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magnus","family":"Landgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hester Y.","family":"Kroes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuval","family":"Yaron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Pope","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Foulds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Boute","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Gal\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Kingston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Van der Aa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iratxe","family":"Salcedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marielle E.","family":"Swinkels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carina","family":"Wallgren-Pettersson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orazio","family":"Gabrielli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"De Backer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Coucke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M.","family":"De Paepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2008,11,12]]},"reference":[{"key":"10.1002\/humu.20854-BIB1|cit1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1007\/s004390050777","article-title":"A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly","volume":"103","author":"Babcock","year":"1998","journal-title":"Hum Genet"},{"key":"10.1002\/humu.20854-BIB2|cit2","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1096-8628(20000501)92:1<7::AID-AJMG2>3.0.CO;2-8","article-title":"Two novel fibrillin-2 mutations in congenital contractural arachnodactyly","volume":"92","author":"Belleh","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20854-BIB3|cit3","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1093\/hmg\/10.8.835","article-title":"Mutation of the gene encoding fibrillin-2 results in syndactyly in mice","volume":"10","author":"Chaudhry","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20854-BIB4|cit4","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1002\/ajmg.1320250414","article-title":"A severe form of congenital contractural arachnodactyly in two newborn infants","volume":"25","author":"Currarino","year":"1986","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20854-BIB5|cit5","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/352337a0","article-title":"Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene","volume":"352","author":"Dietz","year":"1991","journal-title":"Nature"},{"key":"10.1002\/humu.20854-BIB6|cit6","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/ajmg.c.30068","article-title":"Recent progress towards a molecular understanding of Marfan syndrome","volume":"139","author":"Dietz","year":"2005","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1002\/humu.20854-BIB7|cit7","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1093\/hmg\/8.8.1579","article-title":"Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice","volume":"8","author":"Dixon","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20854-BIB8|cit8","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1002\/humu.10017","article-title":"Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype","volume":"19","author":"Gupta","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20854-BIB9|cit9","doi-asserted-by":"crossref","first-page":"e56","DOI":"10.1136\/jmg.2003.012880","article-title":"FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly","volume":"41","author":"Gupta","year":"2004","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20854-BIB10|cit10","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1542\/peds.49.4.574","article-title":"\u201cNew\u201d syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896","volume":"49","author":"Hecht","year":"1972","journal-title":"Pediatrics"},{"key":"10.1002\/humu.20854-BIB11|cit11","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1177\/44.12.8985131","article-title":"Microfibril-associated glycoprotein (MAGP-1) is specifically located on the beads of the beaded-filament structure for fibrillin-containing microfibrils as visualized by the rotary shadowing technique","volume":"44","author":"Henderson","year":"1996","journal-title":"J Histochem Cytochem"},{"key":"10.1002\/humu.20854-BIB12|cit12","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1111\/j.1447-0756.1996.tb01072.x","article-title":"A study of fetal urinary tractanomaly: antenatal ultrasonographic diagnosis and postnatal follow-up","volume":"22","author":"Kim","year":"1996","journal-title":"J Obstet Gynaecol Res"},{"key":"10.1002\/humu.20854-BIB13|cit13","first-page":"1","article-title":"The clinical spectrum of congenital contractural arachnodactyly","volume":"118","author":"Lipson","year":"1974","journal-title":"A case with congenital heart disease. Z Kinderheilkd"},{"issue":"10 Spec No","key":"10.1002\/humu.20854-BIB14|cit14","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1136\/adc.66.10_Spec_No.1143","article-title":"Cardiac anomalies complicating congenital contractural arachnodactyly","volume":"66","author":"Macnab","year":"1991","journal-title":"Arch Dis Child"},{"key":"10.1002\/humu.20854-BIB15|cit15","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1086\/515472","article-title":"A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly","volume":"60","author":"Maslen","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20854-BIB16|cit16","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1002\/ajmg.a.31639","article-title":"FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly","volume":"143","author":"Nishimura","year":"2007","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20854-BIB17|cit17","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1002\/(SICI)1096-8628(19980724)78:4<350::AID-AJMG9>3.0.CO;2-P","article-title":"Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development","volume":"78","author":"Park","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20854-BIB18|cit18","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1038\/ng1295-456","article-title":"Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly","volume":"11","author":"Putnam","year":"1995","journal-title":"Nat Genet"},{"key":"10.1002\/humu.20854-BIB19|cit19","first-page":"818","article-title":"Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts","volume":"60","author":"Putnam","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20854-BIB20|cit20","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1152\/physiolgenomics.00092.2004","article-title":"Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology","volume":"19","author":"Ramirez","year":"2004","journal-title":"Physiol Genomics"},{"key":"10.1002\/humu.20854-BIB21|cit21","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1111\/j.1399-0004.1985.tb02042.x","article-title":"Congenital contractural arachnodactyly. Report of four additional families and review of literature","volume":"27","author":"Ramos Arroyo","year":"1985","journal-title":"Clin Genet"},{"key":"10.1002\/humu.20854-BIB22|cit22","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.2005.039669","article-title":"The molecular genetics of Marfan syndrome and related disorders","volume":"43","author":"Robinson","year":"2006","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20854-BIB23|cit23","doi-asserted-by":"crossref","first-page":"1719","DOI":"10.1002\/ajmg.a.31353","article-title":"Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes","volume":"140","author":"Sakai","year":"2006","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20854-BIB24|cit24","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1750-1172-1-20","article-title":"Congenital contractural arachnodactyly (Beals syndrome)","volume":"1","author":"Tuncbilek","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"10.1002\/humu.20854-BIB25|cit25","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1136\/jmg.31.8.640","article-title":"Congenital contractural arachnodactyly (Beals syndrome)","volume":"31","author":"Viljoen","year":"1994","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20854-BIB26|cit26","first-page":"1027","article-title":"Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2","volume":"59","author":"Wang","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20854-BIB27|cit27","doi-asserted-by":"crossref","first-page":"23045","DOI":"10.1074\/jbc.M402656200","article-title":"Identification of a major microfibril-associated glycoprotein-1-binding domain in fibrillin-2","volume":"279","author":"Werneck","year":"2004","journal-title":"J Biol Chem"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20854","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20854","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,21]],"date-time":"2023-05-21T01:42:27Z","timestamp":1684633347000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20854"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,12]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20854","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2008,11,12]]}}}