{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T13:37:52Z","timestamp":1770989872203,"version":"3.50.1"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,8,25]],"date-time":"2020-08-25T00:00:00Z","timestamp":1598313600000},"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":["Pediatric Dermatology"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a case of pretibial dystrophic epidermolysis bullosa in a 5\u2010year\u2010old girl, her mother, and maternal great aunt. All subjects had trauma\u2010induced blisters and erosions, with scarring, on the knees and lower legs, and nail dystrophy of variable severity. Genetic analysis in all three patients showed a 6849del18 mutation in the <jats:italic>COL7A1<\/jats:italic> gene, causing the production of shortened collagen VII polypeptides and resulting in a mild phenotype, with localized acral blisters and nail involvement.<\/jats:p>","DOI":"10.1111\/pde.14331","type":"journal-article","created":{"date-parts":[[2020,8,25]],"date-time":"2020-08-25T19:33:28Z","timestamp":1598384008000},"page":"1207-1209","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Dominant pretibial dystrophic epidermolysis bullosa in an Italian family"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3787-5145","authenticated-orcid":false,"given":"Mario","family":"Vaccaro","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Medicine Dermatology University of Messina Messina Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Guarneri","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine Dermatology University of Messina Messina Italy"},{"name":"Department of Biomedical, Dental Sciences and Morphological and Functional Images University of Messina Messina Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabrizio","family":"Guarneri","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine Dermatology University of Messina Messina Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Lentini","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine Dermatology University of Messina Messina Italy"},{"name":"Department of Human Pathology in Adult and Developmental Age \"Gaetano Barresi\" University of Messina Messina Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serafinella P.","family":"Cannav\u00f2","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine Dermatology University of Messina Messina Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,8,25]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2019.06.032"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/jocd.13172"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2005.10.097"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5701152"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/302029"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14331","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14331","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14331","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T19:39:15Z","timestamp":1693337955000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14331"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,25]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1111\/pde.14331"],"URL":"https:\/\/doi.org\/10.1111\/pde.14331","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,25]]},"assertion":[{"value":"2020-05-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}