{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T09:10:07Z","timestamp":1759482607852,"version":"3.40.5"},"reference-count":23,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,9]],"date-time":"2022-04-09T00:00:00Z","timestamp":1649462400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Ehlers\u2013Danlos Syndromes (EDS) are a group of inherited connective tissue disorders with a worldwide prevalence of 1 in 2500 to 1 in 5000 births irrespective of sex or ethnicity. Fourteen subtypes of Ehlers\u2013Danlos Syndrome (EDS) have been described, each with characteristic phenotypes and associated genes. Pathogenic variants in <jats:italic>COL5A1<\/jats:italic> and <jats:italic>COL5A2<\/jats:italic> cause the classical EDS subtypes. Pathogenic variants in <jats:italic>COL3A1<\/jats:italic> cause vascular EDS. In this case report, we describe a patient with a phenotype resembling that of vascular EDS, caused by a novel pathogenic variant in <jats:italic>COL5A1<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.62745","type":"journal-article","created":{"date-parts":[[2022,4,9]],"date-time":"2022-04-09T09:38:23Z","timestamp":1649497103000},"page":"2192-2197","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A patient with a novel pathogenic variant in <scp><i>COL5A1<\/i><\/scp> exhibiting prominent vascular and cardiac features"],"prefix":"10.1002","volume":"188","author":[{"given":"Katta","family":"Lavanya","sequence":"first","affiliation":[{"name":"Atwal Clinic  Palm Beach Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karishma","family":"Mahtani","sequence":"additional","affiliation":[{"name":"Atwal Clinic  Palm Beach Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Abbott","sequence":"additional","affiliation":[{"name":"Atwal Clinic  Palm Beach Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angita","family":"Jain","sequence":"additional","affiliation":[{"name":"Atwal Clinic  Palm Beach Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8897-914X","authenticated-orcid":false,"given":"Pavalan","family":"Selvam","sequence":"additional","affiliation":[{"name":"Atwal Clinic  Palm Beach Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herjot","family":"Atwal","sequence":"additional","affiliation":[{"name":"Atwal Clinic  Palm Beach Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houssam","family":"Farres","sequence":"additional","affiliation":[{"name":"Department of Vascular Surgery Mayo Clinic  Jacksonville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8515-744X","authenticated-orcid":false,"given":"Paldeep S.","family":"Atwal","sequence":"additional","affiliation":[{"name":"Atwal Clinic  Palm Beach Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,4,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13643"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes10100762"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.02.018"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33541"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvs.2009.08.019"},{"volume-title":"GeneReviews\u00ae [Internet]","year":"1999","author":"Byers P. 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