{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T08:57:51Z","timestamp":1791536271943,"version":"4.3.4"},"reference-count":5,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,12,26]],"date-time":"2012-12-26T00:00:00Z","timestamp":1356480000000},"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":[[2014,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Herlitz junctional epidermolysis bullosa (H\u2010<jats:styled-content style=\"fixed-case\">JEB<\/jats:styled-content>) is a rare, heritable mechanobullous disease that affects infants at birth and causes early death. This disease is primarily caused by compound heterozygous or homozygous mutations in one of three genes affecting the function of one of the three chains of the laminin\u2010332 (formerly laminin\u20105) protein. Here we report a case of H\u2010<jats:styled-content style=\"fixed-case\">JEB<\/jats:styled-content> with a novel heterozygous mutation in <jats:italic><jats:styled-content style=\"fixed-case\">LAMB<\/jats:styled-content>3<\/jats:italic>,c.1597G&gt;A (p.Ala533Thr). These findings attest to the molecular heterogeneity of <jats:styled-content style=\"fixed-case\">JEB<\/jats:styled-content> and emphasize the importance of genetic analysis to help make an accurate diagnosis, predict clinical prognosis, and identify phenotypic\u2010genotypic relationships that may aid in prenatal diagnosis and genetic counseling for the future.<\/jats:p>","DOI":"10.1111\/pde.12018","type":"journal-article","created":{"date-parts":[[2012,12,27]],"date-time":"2012-12-27T02:48:06Z","timestamp":1356576486000},"page":"530-532","source":"Crossref","is-referenced-by-count":5,"title":["Herlitz Junctional Epidermolysis Bullosa with a Novel Mutation in <scp>LAMB<\/scp>3"],"prefix":"10.1111","volume":"31","author":[{"given":"Ashley","family":"Kittridge","sequence":"first","affiliation":[{"name":"Department of Dermatology University Hospitals\/Case Medical Center Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riddhi","family":"Patel","sequence":"additional","affiliation":[{"name":"Chicago College of Osteopathic Medicine Midwestern University Downers Grove IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Novoa","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospitals\/Case Medical Center Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"Tamburro","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospitals\/Case Medical Center Cleveland Ohio"},{"name":"Department of Pediatrics University Hospitals\/Case Medical Center Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,12,26]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.006"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.2.231"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2011.01.010"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2009.00800.x"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039685"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12018","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12018","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T13:57:28Z","timestamp":1695477448000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12018"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12,26]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["10.1111\/pde.12018"],"URL":"https:\/\/doi.org\/10.1111\/pde.12018","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12,26]]}}}