{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T13:37:48Z","timestamp":1770989868645,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,8,30]],"date-time":"2021-08-30T00:00:00Z","timestamp":1630281600000},"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":["The Journal of Dermatology"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Loss of \u03b16 and \u03b24 integrin expression caused by germ line mutations in <jats:italic>ITGA6<\/jats:italic> and <jats:italic>ITGB4<\/jats:italic> usually leads to junctional epidermolysis bullosa (JEB) with pyloric atresia (PA) (JEB\u2010PA; Online Mendelian Inheritance in Man #226730). However, recent studies have suggested that integrin\u2010associated JEB may occur without PA but with other symptoms of the epithelial tissues. Here, we present a case of a Chinese woman with JEB without PA but with profound urinary symptoms. Mutation analysis revealed that the patient carried compound heterozygous mutations in the <jats:italic>ITGB4<\/jats:italic> gene: a frameshift mutation c.600dupC (p.Phe201Leufs*15) and a novel missense mutation c.599C&gt;G (p.Pro200Arg). Our report not only raises the question of whether the designation JEB\u2010PA is appropriate, but also expands our current knowledge of the <jats:italic>ITGB4<\/jats:italic> mutation spectrum.<\/jats:p>","DOI":"10.1111\/1346-8138.16104","type":"journal-article","created":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T06:32:37Z","timestamp":1630391557000},"page":"1780-1785","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of novel compound heterozygous <i>ITGB4<\/i> mutations in a Chinese woman with junctional epidermolysis bullosa without pylori atresia but profound urinary symptoms: A case report and review of the literature"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7060-254X","authenticated-orcid":false,"given":"Xingli","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Dermatology West China Hospital Sichuan University Chengdu 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Hospital Sichuan University Chengdu China"},{"name":"Department of Rare Diseases Center West China Hospital Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-020-0210-0"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12317"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0484"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.14591"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0906-6705.2004.00107.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0695-229"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2000.00960-3.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2012.11182.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1888"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1381"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ju.0000143200.86683.2c"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1990.tb08171.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["The 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