{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T07:20:05Z","timestamp":1773818405323,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,7,4]],"date-time":"2022-07-04T00:00:00Z","timestamp":1656892800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The study describes all patients in Denmark with vascular Ehlers\u2013Danlos syndrome (vEDS). Carriers of pathogenic or likely pathogenic\n                    <jats:italic>COL3A1<\/jats:italic>\n                    variants were retrospectively identified through registries and specialized clinics. Medical records were reviewed for vascular\u2010 or organ ruptures and invasive procedures performed. Identified families were divided by variant type (null, splice, and missense) and familial phenotypes (severe or attenuated). Families in which at least one carrier has suffered a major event before the age of 30 were classified as severe, whereas families in which at least three carriers had reached the age of 40 without a major event were classified as attenuated. Eighty\u2010seven persons (59 still alive) from 25 families were included with a mean observation time of 44\u2009years. Sixty\u2010seven percent of patients could be subclassified in a familial phenotype. Thirty\u2010one major events were observed. Eleven complications in 172 invasive procedures were recorded. No fatal complications to elective surgery were observed. The type of\n                    <jats:italic>COL3A1<\/jats:italic>\n                    variant did not reliably predict phenotype, but a pattern of intrafamilial consistency emerged with some families showing an attenuated form of vEDS. Elective medical procedures appear to be safer than previously thought, although data only allow for conclusions regarding individuals from families with the attenuated form of vEDS.\n                  <\/jats:p>","DOI":"10.1111\/cge.14176","type":"journal-article","created":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T07:03:38Z","timestamp":1655190218000},"page":"191-200","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Carriers of\n                    <scp>\n                      <i>COL3A1<\/i>\n                    <\/scp>\n                    pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures"],"prefix":"10.1111","volume":"102","author":[{"given":"Sofus","family":"S\u00f8lyst","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"},{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riina","family":"Oksjoki","sequence":"additional","affiliation":[{"name":"Department of Cardiology Copenhagen University Hospital, Herlev\u2010Gentofte and Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stense","family":"Farholt","sequence":"additional","affiliation":[{"name":"Department of Cardiology Aarhus University Hospital  Aarhus Denmark"},{"name":"Center for Rare Diseases, Pediatric and Adolescent Medicine Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorte Guldbrand","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Department of Cardiology Copenhagen University Hospital, Herlev\u2010Gentofte and Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex H.","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"},{"name":"Center for Rare Diseases, Pediatric and Adolescent Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5206-4327","authenticated-orcid":false,"given":"Christina R.","family":"Fagerberg","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lotte","family":"Risom","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3424-0590","authenticated-orcid":false,"given":"Pernille Ax\u00e9l","family":"Gregersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5428-0739","authenticated-orcid":false,"given":"Maria Bejerholm","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Torsten Bloch","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Department of Cardiology Copenhagen University Hospital, Herlev\u2010Gentofte and Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9306-3419","authenticated-orcid":false,"given":"Birgitte Rode","family":"Diness","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"},{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31552"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2018.04.013"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31553"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.72"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1980.tb04610.x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9861(84)90266-2"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.64.070195.002155"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2019.05.003"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182180c89"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.32"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvs.2014.01.070"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a004978"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes10080609"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.114.000507"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.53"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01858.x"},{"key":"e_1_2_9_18_1","first-page":"1","article-title":"Vascular 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ESHG 2021 \u2010 Virtual Conferencehttps:\/\/www.abstractsonline.com\/pp8\/#!\/10372\/presentation\/142(2021)."}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14176","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14176","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14176","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T14:20:56Z","timestamp":1692800456000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14176"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,4]]},"references-count":31,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1111\/cge.14176"],"URL":"https:\/\/doi.org\/10.1111\/cge.14176","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14176\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14176\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14176\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14176\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14176\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14176\/v2\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,4]]},"assertion":[{"value":"2022-02-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}