{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:17:57Z","timestamp":1762507077863,"version":"3.37.3"},"reference-count":5,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,4,19]],"date-time":"2017-04-19T00:00:00Z","timestamp":1492560000000},"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":[[2017,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidermolysis bullosa (<jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content>) is a heterogeneous group of rare, chronic, inherited skin disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions after minor trauma. We present the first report of a nails\u2010only phenotype in two patients with epidermolysis bullosa simplex (<jats:styled-content style=\"fixed-case\">EBS<\/jats:styled-content>) and a heterozygous <jats:styled-content style=\"fixed-case\">pG<\/jats:styled-content>lu170Lys mutation and the second reported case of <jats:styled-content style=\"fixed-case\">EBS<\/jats:styled-content> associated with a homozygous p.Glu170Lys mutation in the <jats:italic>KRT5<\/jats:italic> gene. Our findings may be relevant for genetic counseling and for understanding the inheritance pattern of <jats:styled-content style=\"fixed-case\">EBS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/pde.13146","type":"journal-article","created":{"date-parts":[[2017,4,20]],"date-time":"2017-04-20T02:35:16Z","timestamp":1492655716000},"source":"Crossref","is-referenced-by-count":5,"title":["\u201cNails Only\u201d Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex"],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8060-4784","authenticated-orcid":false,"given":"\u00c1lvaro","family":"Gonz\u00e1lez\u2010Cantero","sequence":"first","affiliation":[{"name":"Department of Dermatology Complejo Hospitalario de Toledo Toledo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Isabel","family":"S\u00e1nchez\u2010Moya","sequence":"additional","affiliation":[{"name":"Department of Dermatology Complejo Hospitalario de Toledo Toledo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"P\u00e9rez\u2010Hortet","sequence":"additional","affiliation":[{"name":"Department of Dermatology Complejo Hospitalario de Toledo Toledo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Mart\u00ednez\u2010Lorenzo","sequence":"additional","affiliation":[{"name":"Department of Dermatology Complejo Hospitalario de Toledo Toledo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blas","family":"G\u00f3mez\u2010Dorado","sequence":"additional","affiliation":[{"name":"Department of Dermatology Complejo Hospitalario de Toledo Toledo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Schoendorff\u2010Ortega","sequence":"additional","affiliation":[{"name":"Department of Dermatology Complejo Hospitalario de Toledo Toledo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,19]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2010.11.002"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M200974200"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12336051"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.017"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13146","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13146","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T12:07:02Z","timestamp":1696162022000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13146"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,19]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["10.1111\/pde.13146"],"URL":"https:\/\/doi.org\/10.1111\/pde.13146","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2017,4,19]]}}}