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Mutational analysis of the elastin gene identified heterozygosity for a previously unreported de novo c.2184del<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> mutation in exon 30 not present in either parent.<\/jats:p>","DOI":"10.1111\/pde.12334","type":"journal-article","created":{"date-parts":[[2014,4,24]],"date-time":"2014-04-24T11:40:50Z","timestamp":1398339650000},"page":"347-349","source":"Crossref","is-referenced-by-count":4,"title":["A Novel Elastin Gene Mutation in a Vietnamese Patient with Cutis Laxa"],"prefix":"10.1111","volume":"31","author":[{"given":"Mark L.","family":"Siefring","sequence":"first","affiliation":[{"name":"Stamford Skin and Medical Centre Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth C.","family":"Lawrence","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Public Health University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom C.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Stamford Skin and Medical Centre Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doanh","family":"Lu","sequence":"additional","affiliation":[{"name":"Stamford Skin and Medical Centre Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giang","family":"Pham","sequence":"additional","affiliation":[{"name":"Stamford Skin and Medical Centre Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christa","family":"Lorenchick","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Public Health University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kara L.","family":"Levine","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Public Health University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3890-1843","authenticated-orcid":false,"given":"Zsolt","family":"Urban","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Public Health University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,4,24]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2011.01.004"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12025"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/skinbio.2012.4"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21462"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034157"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-36"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.2.981"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12334","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12334","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T19:31:15Z","timestamp":1696015875000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12334"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,24]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1111\/pde.12334"],"URL":"https:\/\/doi.org\/10.1111\/pde.12334","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2014,4,24]]}}}