{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T01:33:29Z","timestamp":1790040809489,"version":"4.0.1"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T00:00:00Z","timestamp":1569888000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ehlers\u2010Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of connective tissue disorders. Overlapping features including arterial aneurysms\/dissections in both classical and vascular EDS are a major challenge in the clinical diagnosis of these subtypes. The\n                    <jats:italic>COL1A1<\/jats:italic>\n                    p.(Arg312Cys) variant leads to a phenotype of classical EDS with a propensity to arterial complications. Our report describes a two\u2010generation family with one individual presenting with a dissection of the right external iliac artery. The primary suspicion of vascular EDS with the unsatisfactory identification of a\n                    <jats:italic>COL3A1<\/jats:italic>\n                    benign variant was secondarily readjusted with the identification of\n                    <jats:italic>COL1A1<\/jats:italic>\n                    p.(Arg312Cys) variant. This raises the question of the association of\n                    <jats:italic>COL1A1<\/jats:italic>\n                    p.(Arg312Cys) with arterial complications and the need for a gene panel including not only the usual genes tested in search of classical or vascular EDS but also\n                    <jats:italic>COL1A1<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/cge.13643","type":"journal-article","created":{"date-parts":[[2019,9,18]],"date-time":"2019-09-18T03:17:02Z","timestamp":1568776622000},"page":"357-361","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Classical Ehlers\u2010Danlos syndrome with a propensity to arterial events: A new report on a French family with a\n                    <i>COL1A1<\/i>\n                    p.(Arg312Cys) variant"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2955-0922","authenticated-orcid":false,"given":"Salma","family":"Adham","sequence":"first","affiliation":[{"name":"Assistance\u2010Publique H\u00f4pitaux de Paris, H\u00f4pital europ\u00e9en Georges Pompidou, Centre de r\u00e9f\u00e9rence des maladies vasculaires rares Service de g\u00e9n\u00e9tique  Paris France"},{"name":"Facult\u00e9 de Sant\u00e9 Universit\u00e9 de Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Dupuis\u2010Girod","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, H\u00f4pital Femme M\u00e8re Enfant Service de G\u00e9n\u00e9tique, Centre de comp\u00e9tence des maladies vasculaires rares  Bron France"},{"name":"Inserm, CEA, BIG\u2010Biologie du Cancer et de l'Infection Universit\u00e9 de Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etienne","family":"Charpentier","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de Sant\u00e9 Universit\u00e9 de Paris  Paris France"},{"name":"Assistance\u2010Publique H\u00f4pitaux de Paris, H\u00f4pital europ\u00e9en Georges Pompidou Service de radiologie  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Micha\u00ebl","family":"Mazzella","sequence":"additional","affiliation":[{"name":"Assistance\u2010Publique H\u00f4pitaux de Paris, H\u00f4pital europ\u00e9en Georges Pompidou, Centre de r\u00e9f\u00e9rence des maladies vasculaires rares Service de g\u00e9n\u00e9tique  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Jeunemaitre","sequence":"additional","affiliation":[{"name":"Assistance\u2010Publique H\u00f4pitaux de Paris, H\u00f4pital europ\u00e9en Georges Pompidou, Centre de r\u00e9f\u00e9rence des maladies vasculaires rares Service de g\u00e9n\u00e9tique  Paris France"},{"name":"Facult\u00e9 de Sant\u00e9 Universit\u00e9 de Paris  Paris France"},{"name":"INSERM, UMRS 970, Paris \u2013 Centre de recherche cardiovasculaire PARCC  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Legrand","sequence":"additional","affiliation":[{"name":"Assistance\u2010Publique H\u00f4pitaux de Paris, H\u00f4pital europ\u00e9en Georges Pompidou, Centre de r\u00e9f\u00e9rence des maladies vasculaires rares Service de g\u00e9n\u00e9tique  Paris France"},{"name":"Facult\u00e9 de Sant\u00e9 Universit\u00e9 de Paris  Paris France"},{"name":"INSERM, UMRS 970, Paris \u2013 Centre de recherche cardiovasculaire PARCC  Paris 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