{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:41:58Z","timestamp":1791207718205,"version":"4.1.0"},"reference-count":44,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annales de G\u00e9n\u00e9tique"],"published-print":{"date-parts":[[2004,1]]},"DOI":"10.1016\/j.anngen.2003.07.002","type":"journal-article","created":{"date-parts":[[2003,9,22]],"date-time":"2003-09-22T19:25:23Z","timestamp":1064258723000},"page":"1-9","source":"Crossref","is-referenced-by-count":127,"title":["Vascular Ehlers\u2013Danlos syndrome"],"prefix":"10.1016","volume":"47","author":[{"given":"Dominique P","family":"Germain","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yessica","family":"Herrera-Guzman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.anngen.2003.07.002_BIB1","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1042\/bj2600509","article-title":"Structure of cDNA clones coding for the entire preproa1(III) chain of human type III collagen","volume":"260","author":"Ala-Kokko","year":"1989","journal-title":"Biochem. J."},{"key":"10.1016\/j.anngen.2003.07.002_BIB2","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0967-2109(99)00070-8","article-title":"Emergency repair of type A aortic dissection in type IV Ehlers\u2013Danlos syndrome","volume":"8","author":"Ascione","year":"2000","journal-title":"Cardiovasc. Surg."},{"key":"10.1016\/j.anngen.2003.07.002_BIB3","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1055\/s-2007-994321","article-title":"Myocardial infarction and coronary artery dissection during pregnancy associated with type IV Ehlers\u2013Danlos syndrome","volume":"13","author":"Athanassiou","year":"1996","journal-title":"Am. J. Perinatol."},{"key":"10.1016\/j.anngen.2003.07.002_BIB4","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O","article-title":"Ehlers\u2013Danlos syndromes: revised nosology, Villefranche, 1997","volume":"77","author":"Beighton","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.anngen.2003.07.002_BIB5","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1007\/BF02049321","article-title":"Surgical pitfalls in a patient with type IV Ehlers\u2013Danlos syndrome and spontaneous colonic rupture. Report of a case","volume":"37","author":"Berney","year":"1994","journal-title":"Dis. Colon Rectum"},{"key":"10.1016\/j.anngen.2003.07.002_BIB6","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1111\/1523-1747.ep12319926","article-title":"Ehlers\u2013Danlos syndrome type IV: a genetic disorder in many guises","volume":"105","author":"Byers","year":"1995","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.anngen.2003.07.002_BIB7","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1007\/s100249900095","article-title":"Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers\u2013Danlos syndrome type IV","volume":"2","author":"Collins","year":"1999","journal-title":"Pediatr. Dev. Pathol."},{"key":"10.1016\/j.anngen.2003.07.002_BIB8","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1055\/s-0038-1650281","article-title":"The Ehlers\u2013Danlos syndrome: a heritable collagen disorder as cause of bleeding","volume":"75","author":"De Paepe","year":"1996","journal-title":"Thromb. Haemost."},{"key":"10.1016\/j.anngen.2003.07.002_BIB9","doi-asserted-by":"crossref","first-page":"3385","DOI":"10.1073\/pnas.82.10.3385","article-title":"Human \u03b11(III) and \u03b1 2(V) procollagen genes are located on the long arm of chromosome 2","volume":"82","author":"Emanuel","year":"1985","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.anngen.2003.07.002_BIB10","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/0167-5273(96)02618-6","article-title":"Spontaneous coronary artery rupture and cardiac tamponade in Ehlers\u2013Danlos syndrome type IV","volume":"54","author":"Evans","year":"1996","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.anngen.2003.07.002_BIB11","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.1023\/A:1018869617076","article-title":"Spontaneous rupture of liver in a patient with Ehlers Danlos disease type IV","volume":"42","author":"Gelbmann","year":"1997","journal-title":"Dig. Dis. Sci."},{"key":"10.1016\/j.anngen.2003.07.002_BIB12","first-page":"187","article-title":"Ehlers\u2013Danlos syndromes. Clinical, genetic and molecular aspects","volume":"122","author":"Germain","year":"1995","journal-title":"Ann. Dermatol. Venereol."},{"key":"10.1016\/j.anngen.2003.07.002_BIB13","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/s10016-001-0229-y","article-title":"Clinical and genetic features of vascular Ehlers\u2013Danlos syndrome","volume":"16","author":"Germain","year":"2002","journal-title":"Ann. Vasc. Surg."},{"key":"10.1016\/j.anngen.2003.07.002_BIB14","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<305::AID-AJMG6>3.0.CO;2-C","article-title":"Large kindred with Ehlers\u2013Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives","volume":"82","author":"Gilchrist","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.anngen.2003.07.002_BIB15","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/1098-1004(200008)16:2<176::AID-HUMU12>3.0.CO;2-E","article-title":"Characterization of 11\u00a0new mutations in COL3A1 of individuals with Ehlers\u2013Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays","volume":"16","author":"Giunta","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.anngen.2003.07.002_BIB16","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1016\/0003-4975(94)90488-X","article-title":"Emergency operation for thoracic aortic aneurysm caused by the Ehlers\u2013Danlos syndrome","volume":"58","author":"Hamano","year":"1994","journal-title":"Ann. Thorac. Surg."},{"key":"10.1016\/j.anngen.2003.07.002_BIB17","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/s005950170228","article-title":"Ruptured dissecting aneurysm in bilateral iliac arteries caused by Ehlers\u2013Danlos syndrome type IV: report of a case","volume":"31","author":"Imamura","year":"2001","journal-title":"Surg. Today"},{"key":"10.1016\/j.anngen.2003.07.002_BIB18","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1046\/j.1365-2133.2001.04206.x","article-title":"Acrogeric phenotype in Ehlers\u2013Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene","volume":"144","author":"Jansen","year":"2001","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.anngen.2003.07.002_BIB19","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1177\/014107680109400108","article-title":"Vascular Ehlers\u2013Danlos syndrome undiagnosed during life","volume":"94","author":"Jarmulowicz","year":"2001","journal-title":"J. R. Soc. Med."},{"key":"10.1016\/j.anngen.2003.07.002_BIB20","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/S0887-8994(01)00315-0","article-title":"Intracranial aneurysms in Ehlers\u2013Danlos syndrome type IV in early childhood","volume":"25","author":"Kato","year":"2001","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.anngen.2003.07.002_BIB21","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1161\/01.CIR.100.13.e57","article-title":"Skin manifestations, multiple aneurysms, and carotid-cavernous fistula in Ehlers\u2013Danlos syndrome type IV","volume":"100","author":"Koh","year":"1999","journal-title":"Circulation"},{"key":"10.1016\/j.anngen.2003.07.002_BIB22","doi-asserted-by":"crossref","first-page":"1852","DOI":"10.1073\/pnas.94.5.1852","article-title":"Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development","volume":"94","author":"Liu","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.anngen.2003.07.002_BIB23","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1136\/jmg.30.5.376","article-title":"A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers\u2013Danlos syndrome type IV","volume":"30","author":"Lloyd","year":"1993","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.anngen.2003.07.002_BIB24","series-title":"Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes","author":"McKusick","year":"1994"},{"key":"10.1016\/j.anngen.2003.07.002_BIB25","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/S0196-0644(96)70066-5","article-title":"Presentation of Ehlers\u2013Danlos syndrome: iliac artery pseudoaneurysm rupture","volume":"28","author":"Meldon","year":"1996","journal-title":"Ann. Emerg. Med."},{"key":"10.1016\/j.anngen.2003.07.002_BIB26","first-page":"62","article-title":"Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers\u2013Danlos syndrome type IV in the heterozygous offspring","volume":"53","author":"Milewicz","year":"1993","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.anngen.2003.07.002_BIB27","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1002\/ajmg.1320460308","article-title":"Single base mutation that substitutes glutamic acid for glycine 1021\u00a0in the COL3A1 gene and causes Ehlers\u2013Danlos syndrome type IV","volume":"46","author":"Narcisi","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.anngen.2003.07.002_BIB28","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1007\/BF00291676","article-title":"Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers\u2013Danlos syndrome type IV in a large Belgian pedigree","volume":"78","author":"Nicholls","year":"1988","journal-title":"Hum. Genet."},{"key":"10.1016\/j.anngen.2003.07.002_BIB29","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1046\/j.1365-2796.2001.00761.x","article-title":"Ehlers\u2013Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis","volume":"249","author":"Nishiyama","year":"2001","journal-title":"J. Intern. Med."},{"key":"10.1016\/j.anngen.2003.07.002_BIB30","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1002\/ana.410380620","article-title":"Cerebrovascular complications in Ehlers\u2013Danlos syndrome type IV","volume":"38","author":"North","year":"1995","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.anngen.2003.07.002_BIB31","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1056\/NEJM200003093421001","article-title":"Clinical and genetic features of Ehlers\u2013Danlos syndrome type IV, the vascular type","volume":"342","author":"Pepin","year":"2000","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.anngen.2003.07.002_BIB32","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1111\/j.1365-2133.1996.tb01143.x","article-title":"COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture","volume":"135","author":"Pope","year":"1996","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.anngen.2003.07.002_BIB33","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1007\/BF00197268","article-title":"A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers\u2013Danlos syndrome type IV","volume":"88","author":"Richards","year":"1992","journal-title":"Hum. Genet."},{"key":"10.1016\/j.anngen.2003.07.002_BIB34","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1007\/BF00194313","article-title":"A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847\u00a0to glutamic acid in a family with Ehlers\u2013Danlos syndrome type IV. An unaffected family member is mosaic for the mutation","volume":"89","author":"Richards","year":"1992","journal-title":"Hum. Genet."},{"key":"10.1016\/j.anngen.2003.07.002_BIB35","first-page":"687","article-title":"A brachial aneurysm in childhood caused by Ehlers\u2013Danlos syndrome","volume":"42","author":"Sayin","year":"2001","journal-title":"J. Cardiovasc. Surg."},{"key":"10.1016\/j.anngen.2003.07.002_BIB36","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1086\/324123","article-title":"Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers\u2013Danlos syndrome, Ehlers\u2013Danlos syndrome type IV","volume":"69","author":"Schwarze","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.anngen.2003.07.002_BIB37","first-page":"2282","article-title":"GI manifestations of Ehlers\u2013Danlos syndrome","volume":"91","author":"Solomon","year":"1996","journal-title":"Am. J. Gastroenterol."},{"key":"10.1016\/j.anngen.2003.07.002_BIB38","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/0002-9610(84)90148-X","article-title":"Ehlers\u2013Danlos syndrome type IV: dramatic, deceptive, and deadly","volume":"147","author":"Sparkman","year":"1984","journal-title":"Am. J. Surg."},{"key":"10.1016\/j.anngen.2003.07.002_BIB39","first-page":"351","article-title":"The Ehlers\u2013Danlos syndromes","author":"Steinmann","year":"1993"},{"key":"10.1016\/j.anngen.2003.07.002_BIB40","doi-asserted-by":"crossref","first-page":"6226","DOI":"10.1016\/S0021-9258(18)68776-9","article-title":"Ehlers\u2013Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen","volume":"263","author":"Superti-Furga","year":"1988","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.anngen.2003.07.002_BIB41","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1183\/09031936.02.00219202","article-title":"Ehlers\u2013Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene","volume":"19","author":"Watanabe","year":"2002","journal-title":"Eur. Respir. J."},{"key":"10.1016\/j.anngen.2003.07.002_BIB42","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0736-4679(95)02039-X","article-title":"Fatal vascular catastrophe in Ehlers\u2013Danlos syndrome: a case report and review","volume":"14","author":"Wimmer","year":"1996","journal-title":"J. Emerg. Med."},{"key":"10.1016\/j.anngen.2003.07.002_BIB43","first-page":"229","article-title":"The Ehlers\u2013Danlos syndromes","volume":"12","author":"Yeowell","year":"1993","journal-title":"Semin. Dermatol."},{"key":"10.1016\/j.anngen.2003.07.002_BIB44","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1378\/chest.107.5.1465","article-title":"Fatal hemoptysis in Ehlers\u2013Danlos syndrome. Old malady with a new curse","volume":"107","author":"Yost","year":"1995","journal-title":"Chest"}],"container-title":["Annales de G\u00e9n\u00e9tique"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003399503000650?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003399503000650?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,11]],"date-time":"2021-06-11T09:08:39Z","timestamp":1623402519000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0003399503000650"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,1]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,1]]}},"alternative-id":["S0003399503000650"],"URL":"https:\/\/doi.org\/10.1016\/j.anngen.2003.07.002","relation":{},"ISSN":["0003-3995"],"issn-type":[{"value":"0003-3995","type":"print"}],"subject":[],"published":{"date-parts":[[2004,1]]}}}