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Mutations in plectin a protein involved in hemidesmosome integrity and function, are associated with subtypes of EB, including EB with pyloric atresia and EB with muscular dystrophy. We present two cases of EB with significant urologic involvement resulting from mutations in plectin.<\/jats:p>","DOI":"10.1111\/pde.13026","type":"journal-article","created":{"date-parts":[[2016,11,4]],"date-time":"2016-11-04T07:40:44Z","timestamp":1478245244000},"source":"Crossref","is-referenced-by-count":9,"title":["Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement"],"prefix":"10.1111","volume":"34","author":[{"given":"Gregory D.","family":"Walker","sequence":"first","affiliation":[{"name":"Department of Dermatology Baylor Scott and White Temple Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meghan","family":"Woody","sequence":"additional","affiliation":[{"name":"Dell Medical School University of Texas Austin Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Orrin","sequence":"additional","affiliation":[{"name":"St. John's Institute of Dermatology Guy's and St. Thomas' National Health Service Foundation Trust London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jemima E.","family":"Mellerio","sequence":"additional","affiliation":[{"name":"St. John's Institute of Dermatology Guy's and St. Thomas' National Health Service Foundation Trust London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moise L.","family":"Levy","sequence":"additional","affiliation":[{"name":"Dell Medical School University of Texas Austin Texas"},{"name":"Dell Children's Medical Center Austin Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,11,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12202"},{"key":"e_1_2_5_3_1","volume-title":"GeneReviews [Internet]","author":"Pfendner EG"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv066"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.004"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2014.11.005"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2010.04771.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.23564.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.005"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(99)70252-5"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ju.0000143200.86683.2c"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.3349\/ymj.2000.41.3.411"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(84)80459-5"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1986.tb00503.x"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.2010.09399.x"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.4103\/0189-6725.78673"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13026","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13026","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13026","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T15:19:09Z","timestamp":1695741549000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13026"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,4]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["10.1111\/pde.13026"],"URL":"https:\/\/doi.org\/10.1111\/pde.13026","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,4]]}}}