{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T21:32:05Z","timestamp":1775165525468,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,3,12]],"date-time":"2013-03-12T00:00:00Z","timestamp":1363046400000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The vascular type of the <jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>hlers\u2013<jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>anlos syndrome (<jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>hlers\u2013<jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>anlos syndrome type <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> EDS IV<\/jats:styled-content>;<jats:styled-content style=\"fixed-case\"> OMIM<\/jats:styled-content> #130050) is a rare connective tissue disorder with autosomal dominant transmission caused by mutations in the <jats:styled-content style=\"fixed-case\"><jats:italic>COL3A1<\/jats:italic><\/jats:styled-content> gene resulting in increased fragility of connective tissue with arterial, intestinal, and uterine ruptures and premature death. We present a 28\u2010year\u2010old female who in addition to typical <jats:styled-content style=\"fixed-case\">EDS IV<\/jats:styled-content> symptoms had severe peripheral artery occlusive disease (<jats:styled-content style=\"fixed-case\">PAOD<\/jats:styled-content>) and subtotal stenosis of the abdominal aorta. <jats:styled-content style=\"fixed-case\"><jats:italic>COL3A1<\/jats:italic><\/jats:styled-content> sequencing resulted in detection of an as yet undescribed mutation in exon 36 at position 2465 leading to a nucleotide replacement (c.2465G&gt;C; p.G822A). Ultrastructural analysis of a skin biopsy revealed abnormal morphology and distribution of dermal collagen fibres. We conclude that <jats:styled-content style=\"fixed-case\">PAOD<\/jats:styled-content> is a possible manifestation of <jats:styled-content style=\"fixed-case\">EDS IV<\/jats:styled-content> and that further research is required to define its true prevalence among patients with <jats:styled-content style=\"fixed-case\">EDS IV<\/jats:styled-content> and its molecular pathology including genotype\u2013phenotype correlation.<\/jats:p>","DOI":"10.1111\/exd.12105","type":"journal-article","created":{"date-parts":[[2013,1,31]],"date-time":"2013-01-31T05:26:48Z","timestamp":1359610008000},"page":"231-234","source":"Crossref","is-referenced-by-count":15,"title":["A new <scp><i>COL3A1<\/i><\/scp> mutation in <scp>E<\/scp>hlers\u2013<scp>D<\/scp>anlos syndrome type <scp>IV<\/scp>"],"prefix":"10.1111","volume":"22","author":[{"given":"Johanna","family":"Eder","sequence":"first","affiliation":[{"name":"Department of Dermatology and Venereology Landesklinikum St. Poelten St. Poelten 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