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All family members underwent oral, physical, dermatological, and genetic examinations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Oral manifestation of family members affected with <jats:styled-content style=\"fixed-case\">pEDS<\/jats:styled-content> presented severe periodontitis with multiple or total tooth loss. The proband displayed unique clinical manifestations including a characteristic facial appearance and thin, translucent skin with easily visible venous patterns on feet. Whole\u2010exome sequencing identified missense mutation c.265T&gt;C in <jats:italic>C1R<\/jats:italic> in all affected family members tested and frameshift mutation c.1322delG in <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>3A1<\/jats:italic> in the proband alone. None of the unaffected members showed any marked oral, physical, dermatological, or genetic findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We reported an extremely rare case of <jats:styled-content style=\"fixed-case\">pEDS<\/jats:styled-content> with a missense mutation in <jats:italic>C1R<\/jats:italic> in a Chinese family, with coexistence <jats:italic>C1R<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>3A1<\/jats:italic> mutations in the proband who was suspected to suffer from vascular <jats:styled-content style=\"fixed-case\">EDS<\/jats:styled-content> as well. To our knowledge, this is the first case of coexistence of two forms of <jats:styled-content style=\"fixed-case\">EDS<\/jats:styled-content> in a single individual.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jcpe.12988","type":"journal-article","created":{"date-parts":[[2018,7,19]],"date-time":"2018-07-19T18:40:19Z","timestamp":1532025619000},"page":"1311-1318","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A Chinese family with periodontal Ehlers\u2013Danlos syndrome associated with missense mutation in the <i>C1R gene<\/i>"],"prefix":"10.1111","volume":"45","author":[{"given":"Juan","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Periodontology Nanjing Stomatological Hospital Medical School of Nanjing University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Periodontology Nanjing Stomatological Hospital Medical School of Nanjing University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Periodontology Nanjing Stomatological Hospital Medical School of Nanjing University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingrong","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pathology Nanjing Jinling Hospital School of Medicine Nanjing University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Periodontology Nanjing Stomatological Hospital Medical School of Nanjing University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1979-910X","authenticated-orcid":false,"given":"Wai Keung","family":"Leung","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry The University of Hong Kong  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8621-6579","authenticated-orcid":false,"given":"Weibin","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Periodontology Nanjing Stomatological Hospital Medical School of Nanjing University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,9]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molimm.2007.09.034"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.2334\/josnusd1959.37.214"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1902\/annals.1999.4.1.1"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410305"},{"key":"e_1_2_12_6_1","first-page":"212","article-title":"Ehlers\u2010Danlos syndrome identified from periodontal findings: Case report","volume":"15","author":"Bond P. 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