{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:36:54Z","timestamp":1745469414473,"version":"3.40.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2010,9,25]],"date-time":"2010-09-25T00:00:00Z","timestamp":1285372800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,9,25]],"date-time":"2010-09-25T00:00:00Z","timestamp":1285372800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatology"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>The case of a male neonate of 41 weeks\u2019 gestation who developed blistering of the skin immediately after birth is described. His parents were consanguineous Tunisians. Electron microscopy of a cutaneous biopsy showed skin cleavage within the lamina lucida and immunoepitope mapping revealed a complete absence of laminin 332 expression. These findings referred to the diagnosis of junctional epidermolysis bullosa (JEB) Herlitz type. The neonate died at 3 months of age due to sepsis. Molecular analysis of laminin 332 chain genes LAMA3, LAMB3 and LAMC2 disclosed a novel homozygous nonsense mutation in LAMA3 (p.Y955X). Clinical and laboratory analyses are essential for the diagnosis of JEB subtypes, and molecular analysis screening is crucial to manage a new pregnancy in families with suspected cases of JEB.<\/jats:p>","DOI":"10.1159\/000314076","type":"journal-article","created":{"date-parts":[[2010,9,27]],"date-time":"2010-09-27T07:42:18Z","timestamp":1285573338000},"page":"188-191","source":"Crossref","is-referenced-by-count":2,"title":["A Novel LAMA3 Mutation in a Newborn with Junctional Epidermolysis Bullosa Herlitz Type"],"prefix":"10.1159","volume":"99","author":[{"given":"Iolanda","family":"Mazzucchelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Garofoli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lidia","family":"Decembrino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Castiglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianluca","family":"Tadini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Bellingeri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Borghesi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chryssoula","family":"Tzialla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Manzoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Stronati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,9,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2FS1357-4310%2897%2901112-X"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2005.039685"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jaad.2008.02.004"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016%2FS0151-9638%2805%2979337-6"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F4.5.959"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.1995.1246"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1083%2Fjcb.145.6.1309"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2Fjid.2008.143"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291097-0223%28199704%2917%3A4%3C343%3A%3AAID-PD73%3E3.0.CO%3B2-7"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJMp058026"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1159%2F000196882"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1159%2F000196883"}],"container-title":["Neonatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/314076","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/314076","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:17:28Z","timestamp":1745435848000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000314076"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,25]]},"references-count":12,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2011,3,1]]},"published-print":{"date-parts":[[2011,3,28]]}},"URL":"https:\/\/doi.org\/10.1159\/000314076","archive":["Portico"],"relation":{},"ISSN":["1661-7800","1661-7819"],"issn-type":[{"type":"print","value":"1661-7800"},{"type":"electronic","value":"1661-7819"}],"subject":[],"published":{"date-parts":[[2010,9,25]]}}}