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Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance.<\/jats:p>","DOI":"10.1177\/1538574417692114","type":"journal-article","created":{"date-parts":[[2017,2,9]],"date-time":"2017-02-09T23:52:37Z","timestamp":1486684357000},"page":"141-145","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["A New\n                    <i>COL3A1<\/i>\n                    Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family"],"prefix":"10.1177","volume":"51","author":[{"given":"Francesca","family":"Cortini","sequence":"first","affiliation":[{"name":"Department of Clinical Sciences and Community Health, University of Milan IRCCS Ca\u2019 Granda Foundation, Milano, Italy"},{"name":"Genetics Laboratory, IRCCS Ca\u2019 Granda Foundation, Milan, 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