{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T04:50:40Z","timestamp":1791867040795,"version":"4.3.4"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,4,26]],"date-time":"2016-04-26T00:00:00Z","timestamp":1461628800000},"content-version":"vor","delay-in-days":25,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003329","name":"Spanish Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"crossref","award":["SAF 2010-16976"],"award-info":[{"award-number":["SAF 2010-16976"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003329","name":"Spanish Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"crossref","award":["SAF2013-43475-R"],"award-info":[{"award-number":["SAF2013-43475-R"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER)","award":["13-714\/172.04"],"award-info":[{"award-number":["13-714\/172.04"]}]},{"DOI":"10.13039\/100012818","name":"Comunidad de Madrid","doi-asserted-by":"crossref","award":["S2010\/BMD-2420"],"award-info":[{"award-number":["S2010\/BMD-2420"]}],"id":[{"id":"10.13039\/100012818","id-type":"DOI","asserted-by":"crossref"}]},{"name":"FUNDACION RAMON ARECES","award":["CIVP16A1864"],"award-info":[{"award-number":["CIVP16A1864"]}]},{"name":"GENEGRAFT"},{"name":"Spanish Ministry of Economy and Competitiveness (Programme Juan de la Cierva)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2016,4]]},"abstract":"Abstract<\/jats:title>Epidermolysis bullosa with pyloric atresia (EB<\/jats:styled-content>\u2010PA<\/jats:styled-content>) is a rare autosomal recessive hereditary disease with a variable prognosis from lethal to very mild. EB<\/jats:styled-content>\u2010PA<\/jats:styled-content> is classified into Simplex form (EBS<\/jats:styled-content>\u2010PA<\/jats:styled-content>: OMIM<\/jats:styled-content> #612138) and Junctional form (JEB<\/jats:styled-content>\u2010PA<\/jats:styled-content>: OMIM<\/jats:styled-content> #226730), and it is caused by mutations in ITGA<\/jats:styled-content>6<\/jats:italic>, ITGB<\/jats:styled-content>4<\/jats:italic> and PLEC<\/jats:styled-content><\/jats:italic> genes. We report the analysis of six patients with EB<\/jats:styled-content>\u2010PA<\/jats:styled-content>, including two dizygotic twins. Skin immunofluorescence epitope mapping was performed followed by PCR<\/jats:styled-content> and direct sequencing of the ITGB<\/jats:styled-content>4<\/jats:italic> gene. Two of the patients presented with non\u2010lethal EB<\/jats:styled-content>\u2010PA<\/jats:styled-content> associated with missense ITGB<\/jats:styled-content>4<\/jats:italic> gene mutations. For the other four, early postnatal demise was associated with complete lack of \u03b2<\/jats:italic>4 integrin due to a variety of ITGB<\/jats:styled-content>4<\/jats:italic> novel mutations (2 large deletions, 1 splice\u2010site mutation and 3 missense mutations). One of the deletions spanned 278 bp, being one of the largest reported to date for this gene. Remarkably, we also found for the first time a founder effect for one novel mutation in the ITGB<\/jats:styled-content>4<\/jats:italic> gene. We have identified 6 novel mutations in the ITGB<\/jats:styled-content>4<\/jats:italic> gene to be added to the mutation database. Our results reveal genotype\u2013phenotype correlations that contribute to the molecular understanding of this heterogeneous disease, a pivotal issue for prognosis and for the development of novel evidence\u2010based therapeutic options for EB<\/jats:styled-content> management.<\/jats:p>","DOI":"10.1111\/exd.12938","type":"journal-article","created":{"date-parts":[[2016,1,7]],"date-time":"2016-01-07T12:23:37Z","timestamp":1452169417000},"page":"269-274","source":"Crossref","is-referenced-by-count":14,"title":["Identification of two rare and novel large deletions in ITGB<\/scp>4<\/i> gene causing epidermolysis bullosa with pyloric atresia"],"prefix":"10.1111","volume":"25","author":[{"given":"\u00c1ngeles","family":"Menc\u00eda","sequence":"first","affiliation":[{"name":"Department of Bioengineering Tissue Engineering and Regenerative Medicine Group (TERMeG) Universidad Carlos III de Madrid Madrid Spain"},{"name":"Regenerative Medicine Unit Centro de Investigaciones Energ\u00e9tica Medioambientales y Tecnol\u00f3gicas (CIEMAT) Madrid Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria de la Fundaci\u00f3n Jimenez Diaz (IIS\u2010FJD) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Garc\u00eda","sequence":"additional","affiliation":[{"name":"Department of Bioengineering Tissue Engineering and Regenerative Medicine Group (TERMeG) Universidad Carlos III de Madrid Madrid Spain"},{"name":"Regenerative Medicine Unit Centro de Investigaciones Energ\u00e9tica Medioambientales y Tecnol\u00f3gicas (CIEMAT) Madrid Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria de la Fundaci\u00f3n Jimenez Diaz (IIS\u2010FJD) Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER) ISCIII Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Garc\u00eda","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Sanitaria de la Fundaci\u00f3n Jimenez Diaz (IIS\u2010FJD) Madrid Spain"},{"name":"Laboratorio de Ingenier\u00eda de Tejidos Centro Comunitario de Sangre y Tejidos de Asturias (CCST) Asturias Oviedo Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Llames","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Sanitaria de la Fundaci\u00f3n Jimenez Diaz (IIS\u2010FJD) Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Raras (CIBERER) ISCIII Madrid Spain"},{"name":"Laboratorio de Ingenier\u00eda de Tejidos Centro Comunitario de Sangre y Tejidos de Asturias (CCST) Asturias Oviedo Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Charlesworth","sequence":"additional","affiliation":[{"name":"French Reference Centre for Inherited Epidermolysis Bullosa L'Archet Hospital BP 3079 06202 Nice Cedex3 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Group (TERMeG) Universidad Carlos III de Madrid Madrid Spain"},{"name":"Regenerative Medicine Unit Centro de Investigaciones Energ\u00e9tica Medioambientales y Tecnol\u00f3gicas (CIEMAT) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio J","family":"Conti","sequence":"additional","affiliation":[{"name":"Department of Bioengineering Tissue Engineering and Regenerative Medicine Group (TERMeG) Universidad Carlos III de Madrid Madrid Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria de la Fundaci\u00f3n Jimenez Diaz (IIS\u2010FJD) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Esc\u00e1mez Toledano","sequence":"additional","affiliation":[{"name":"Department of Bioengineering Tissue Engineering and Regenerative Medicine Group (TERMeG) Universidad Carlos III de Madrid Madrid Spain"},{"name":"Regenerative Medicine Unit Centro de Investigaciones Energ\u00e9tica Medioambientales y 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