{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T20:57:19Z","timestamp":1793307439648,"version":"4.5.0"},"reference-count":16,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81400187"],"award-info":[{"award-number":["81400187"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81230015"],"award-info":[{"award-number":["81230015"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"CAMS Innovation Fund for Medical Sciences","award":["2016-I2M-1-002"],"award-info":[{"award-number":["2016-I2M-1-002"]}]},{"DOI":"10.13039\/501100009592","name":"Beijing Municipal Science and Technology Commission","doi-asserted-by":"crossref","award":["Z151100003915078"],"award-info":[{"award-number":["Z151100003915078"]}],"id":[{"id":"10.13039\/501100009592","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2016YFC0905100"],"award-info":[{"award-number":["2016YFC0905100"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2016YFC0901501"],"award-info":[{"award-number":["2016YFC0901501"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2017,11]]},"DOI":"10.1016\/j.cca.2017.08.023","type":"journal-article","created":{"date-parts":[[2017,8,24]],"date-time":"2017-08-24T06:18:16Z","timestamp":1503555496000},"page":"54-59","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"special_numbering":"C","title":["Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome"],"prefix":"10.1016","volume":"474","author":[{"given":"Jiacheng","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaoxia","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rongrong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuo","family":"Si","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuyang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2017.08.023_bb0005","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":"139c","author":"Dietz","year":"2005","journal-title":"Am. J. Med. Genet. C: Semin. Med. Genet."},{"key":"10.1016\/j.cca.2017.08.023_bb0010","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R","article-title":"Revised diagnostic criteria for the Marfan syndrome","volume":"62","author":"De","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.cca.2017.08.023_bb0015","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/ng1511","article-title":"A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2","volume":"37","author":"Loeys","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.cca.2017.08.023_bb0020","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1002\/humu.22540","article-title":"An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?","volume":"35","author":"Gillis","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cca.2017.08.023_bb0025","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/humu.10249","article-title":"Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database","volume":"22","author":"Collod-Beroud","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cca.2017.08.023_bb0030","first-page":"744","article-title":"Detection of deletion mutations of FBN1 in two patients with Marfan syndrome using next generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) technique","volume":"33","author":"Lu","year":"2015","journal-title":"Chin. J. Clin. Lab. Sci."},{"key":"10.1016\/j.cca.2017.08.023_bb0035","doi-asserted-by":"crossref","first-page":"5917","DOI":"10.1073\/pnas.89.13.5917","article-title":"Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides","volume":"89","author":"Kainulainen","year":"1992","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.cca.2017.08.023_bb0040","doi-asserted-by":"crossref","first-page":"2750","DOI":"10.1074\/jbc.M209256200","article-title":"Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein","volume":"278","author":"Isogai","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.cca.2017.08.023_bb0045","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/ng1116","article-title":"Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome","volume":"33","author":"Neptune","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.cca.2017.08.023_bb0050","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1083\/jcb.200608167","article-title":"Fibrillin-1 regulates the bioavailability of TGFbeta1","volume":"176","author":"Chaudhry","year":"2007","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.cca.2017.08.023_bb0055","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1055\/s-0030-1247510","article-title":"Neonatal Marfan syndrome: unusually large deletion of exons 24\u201326 of FBN1 associated with poor prognosis","volume":"222","author":"Apitz","year":"2010","journal-title":"Klin. Padiatr."},{"key":"10.1016\/j.cca.2017.08.023_bb0060","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1002\/ajmg.a.37085","article-title":"Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy","volume":"167A","author":"Wooderchak-Donahue","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.cca.2017.08.023_bb0065","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1111\/cge.12314","article-title":"Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations","volume":"86","author":"Pees","year":"2014","journal-title":"Clin. Genet."},{"key":"10.1016\/j.cca.2017.08.023_bb0070","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/1471-2350-2-11","article-title":"Multi-exon deletions of the FBN1 gene in Marfan syndrome","volume":"2","author":"Liu","year":"2001","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.cca.2017.08.023_bb0075","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1186\/1471-2350-12-119","article-title":"Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification","volume":"12","author":"Furtado","year":"2011","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.cca.2017.08.023_bb0080","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s00439-007-0371-x","article-title":"Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome","volume":"122","author":"Matyas","year":"2007","journal-title":"Hum. Genet."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000989811730325X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000989811730325X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,5,18]],"date-time":"2020-05-18T01:30:11Z","timestamp":1589765411000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000989811730325X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":16,"alternative-id":["S000989811730325X"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2017.08.023","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2017,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2017.08.023","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}