{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T13:46:23Z","timestamp":1758807983538,"version":"3.40.4"},"reference-count":17,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2010,12,29]],"date-time":"2010-12-29T00:00:00Z","timestamp":1293580800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,12,29]],"date-time":"2010-12-29T00:00:00Z","timestamp":1293580800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>Dystrophic epidermolysis bullosa (DEB) is a rare, clinically heterogeneous, blistering genodermatosis inherited as either autosomal dominant or recessive trait. All DEB forms are caused by mutations in the &lt;i&gt;COL7A1&lt;\/i&gt; gene, which encodes for type VII collagen, the major component of the anchoring fibrils ensuring epithelial-mesenchymal adhesion. Major determinants of clinical heterogeneity in DEB are &lt;i&gt;COL7A1&lt;\/i&gt; mutation types and their consequences at mRNA and protein levels; nevertheless, siblings with the same genetic alterations can manifest highly variable clinical signs. Here, we report novel compound heterozygous recessive &lt;i&gt;COL7A1&lt;\/i&gt; missense mutations in 2 siblings presenting different DEB clinical subtypes. Our findings document the rare occurrence of recessive inheritance for the nails only DEB variant and emphasize the role of acquired phenotype-modifying factors in DEB pruriginosa pathogenesis.<\/jats:p>","DOI":"10.1159\/000322619","type":"journal-article","created":{"date-parts":[[2011,1,3]],"date-time":"2011-01-03T09:47:56Z","timestamp":1294048076000},"page":"10-14","source":"Crossref","is-referenced-by-count":16,"title":["&lt;i&gt;COL7A1&lt;\/i&gt; Recessive Mutations in Two Siblings with Distinct Subtypes of Dystrophic Epidermolysis Bullosa: Pruriginosa versus Nails Only"],"prefix":"10.1159","volume":"222","author":[{"given":"Sara","family":"Pruneddu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Castiglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Floriddia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Cottoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Zambruno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,12,29]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jaad.2008.02.004"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1600-0625.2008.00723.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2133.1994.tb13109.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.bbrc.2005.10.097"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2006.00679.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2133.2008.08695.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2230.2009.03254.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature06384"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.273.30.19228"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1600-0625.1999.tb00362.x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10038-005-0290-4"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2230.2004.01495.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.20091"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1001%2Farchderm.138.2.269"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jdermsci.2004.02.005"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1747.1998.00394.x"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1747.1999.00713.x"}],"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/322619","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/322619","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:12:51Z","timestamp":1745435571000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000322619"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12,29]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2011,2,1]]},"published-print":{"date-parts":[[2011,2,10]]}},"URL":"https:\/\/doi.org\/10.1159\/000322619","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"type":"print","value":"1018-8665"},{"type":"electronic","value":"1421-9832"}],"subject":[],"published":{"date-parts":[[2010,12,29]]}}}