{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T12:28:26Z","timestamp":1781353706667,"version":"3.54.1"},"reference-count":5,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T00:00:00Z","timestamp":1677024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2020M683318"],"award-info":[{"award-number":["2020M683318"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in <jats:italic>ITGB4<\/jats:italic> are known to cause autosomal recessive junctional epidermolysis bullosa (JEB), which is manifested by severe blistering and granulation tissue, usually complicating pyloric atresia and even leading to death. <jats:italic>ITGB4<\/jats:italic>\u2010associated autosomal dominant epidermolysis bullosa has rarely been documented. Herein, we identified a heterozygous pathogenic\u00a0variant (c.433G&gt;T; p.Asp145Tyr) in <jats:italic>ITGB4<\/jats:italic> causing a mild phenotype of JEB in a Chinese family.<\/jats:p>","DOI":"10.1111\/pde.15282","type":"journal-article","created":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T02:04:50Z","timestamp":1677117890000},"page":"740-742","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A heterozygous mutation in <i>ITGB4<\/i> causing a mild phenotype of junctional epidermolysis bullosa"],"prefix":"10.1111","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3804-8256","authenticated-orcid":false,"given":"Zhongtao","family":"Li","sequence":"first","affiliation":[{"name":"Department of Dermatology, West China Hospital Sichuan University  Chengdu China"},{"name":"Laboratory of Dermatology Clinical Institute of Inflammation and Immunology (CIII), Frontiers Science Center for Disease\u2010related Molecular Network, West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, West China Hospital Sichuan University  Chengdu China"},{"name":"Laboratory of Dermatology Clinical Institute of Inflammation and Immunology (CIII), Frontiers Science Center for Disease\u2010related Molecular Network, West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, West China Hospital Sichuan University  Chengdu China"},{"name":"Laboratory of Dermatology Clinical Institute of Inflammation and Immunology (CIII), Frontiers Science Center for Disease\u2010related Molecular Network, West China Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,2,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cup.12521"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2007.03.001"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.09.023"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2015.5236"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.21774"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15282","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.15282","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15282","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T05:40:14Z","timestamp":1692337214000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15282"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,22]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1111\/pde.15282"],"URL":"https:\/\/doi.org\/10.1111\/pde.15282","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,22]]},"assertion":[{"value":"2022-11-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}