{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,30]],"date-time":"2024-04-30T21:40:06Z","timestamp":1714513206911},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,10,29]],"date-time":"2012-10-29T00:00:00Z","timestamp":1351468800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:p><jats:bold>Abstract:\u2002<\/jats:bold>A defect in type VII collagen causes dystrophic epidermolysis bullosa (DEB). The pruriginosa variant (DEB\u2010Pr) is unique because its initial presentation may be delayed until adolescence or adulthood, and its predominant feature is scarring and pruritus without the characteristic skin fragility of DEB. We describe three families with multiple affected members in which DEB\u2010Pr shows an autosomal\u2010dominant inheritance pattern. All affected individuals were examined, and three previously unreported<jats:italic>COL7A1<\/jats:italic>mutations were identified.<\/jats:p>","DOI":"10.1111\/j.1525-1470.2012.01786.x","type":"journal-article","created":{"date-parts":[[2012,10,29]],"date-time":"2012-10-29T16:51:01Z","timestamp":1351529461000},"page":"732-737","source":"Crossref","is-referenced-by-count":10,"title":["Epidermolysis Bullosa Pruriginosa: Further Clarification of the Phenotype"],"prefix":"10.1111","volume":"29","author":[{"given":"Katherine","family":"Brick","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer L.","family":"Hand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy S.","family":"Frankel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dawn H.","family":"Siegel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly B.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rokea","family":"el\u2010Azhary","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfons","family":"Krol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,10,29]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1994.tb13109.x"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0605"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10414.x"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00679.x"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2009.03271.x"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2011.189"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00614.x"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2011.01.011"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1159\/000245691"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1154"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2010.01008.x"},{"key":"e_1_2_7_13_2","first-page":"4","article-title":"Pretibial dystrophic epidermolysis bullosa","volume":"63","author":"Bridges AG","year":"1999","journal-title":"Cutis"},{"key":"e_1_2_7_14_2","first-page":"3","article-title":"A glycine\u2010to\u2010arginine substitution in the triple\u2010helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa","volume":"108","author":"Lee JY","year":"1997","journal-title":"J Invest Dermatol"},{"key":"e_1_2_7_15_2","doi-asserted-by":"crossref","first-page":"26","DOI":"10.5070\/D37V08F7Q4","article-title":"Pretibial epidermolysis bullosa","volume":"14","author":"Rizzo C","year":"2008","journal-title":"Dermatol Online J"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.02.004"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.9.1579"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00394.x"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2009.03254.x"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1525-1470.2012.01786.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1525-1470.2012.01786.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,30]],"date-time":"2024-04-30T21:12:19Z","timestamp":1714511539000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1525-1470.2012.01786.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,29]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["10.1111\/j.1525-1470.2012.01786.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1525-1470.2012.01786.x","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10,29]]}}}