{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:20:17Z","timestamp":1740126017291,"version":"3.37.3"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,22]],"date-time":"2017-12-22T00:00:00Z","timestamp":1513900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Centro de Investigaciones Energ\u00e9ticas, Medioambientales y Tecnol\u00f3gicas, Instituto de Investigaci\u00f3n Sanitaria de la Fundaci\u00f3n Jim\u00e9nez D\u00edaz","award":["GENEGRAFT HEALTH-F2-2011-261392","SAF2013-43475-R","ICI14\/00363"],"award-info":[{"award-number":["GENEGRAFT HEALTH-F2-2011-261392","SAF2013-43475-R","ICI14\/00363"]}]},{"name":"DEBRA-Spain"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dystrophic epidermolysis bullosa is a rare blistering condition caused by mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic> gene. Different clinical variants have been described, with dominant and recessive inheritance, but no consistent findings have been elucidated to establish a genotype\u2013phenotype correlation. We present three unrelated patients with two identical pathogenic compound heterozygous mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A1<\/jats:italic> gene that developed different clinical forms of dystrophic epidermolysis bullosa\u2014epidermolysis bullosa pruriginosa and mild recessive non\u2010Hallopeau\u2013Siemens\u2014raising the possibility of other genetic or environmental modifying factors responsible for the phenotype of the disease.<\/jats:p>","DOI":"10.1111\/pde.13367","type":"journal-article","created":{"date-parts":[[2017,12,24]],"date-time":"2017-12-24T09:25:05Z","timestamp":1514107505000},"source":"Crossref","is-referenced-by-count":4,"title":["Identical <i><scp>COL<\/scp>71A1<\/i> heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6438-6550","authenticated-orcid":false,"given":"Nicole","family":"Kn\u00f6pfel","sequence":"first","affiliation":[{"name":"Department of Dermatology Hospital Infantil Universitario Ni\u00f1o Jes\u00fas Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucero","family":"Noguera\u2010Morel","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Infantil Universitario Ni\u00f1o Jes\u00fas Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Hern\u00e1ndez\u2010Martin","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Infantil Universitario Ni\u00f1o Jes\u00fas Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adela","family":"Garc\u00eda\u2010Martin","sequence":"additional","affiliation":[{"name":"Department of Bioengineering Universidad Carlos III de Madrid (UC3M) CIEMAT\u2010Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (U714\u2010CIBERER) Instituto de Investigaci\u00f3n Sanitaria de la Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IISFJD) Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Garc\u00eda","sequence":"additional","affiliation":[{"name":"Department of Bioengineering Universidad Carlos III de Madrid (UC3M) CIEMAT\u2010Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (U714\u2010CIBERER) Instituto de Investigaci\u00f3n Sanitaria de la Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IISFJD) Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ngeles","family":"Menc\u00eda","sequence":"additional","affiliation":[{"name":"Department of Bioengineering Universidad Carlos III de Madrid (UC3M) CIEMAT\u2010Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras 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