{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,18]],"date-time":"2025-01-18T05:12:22Z","timestamp":1737177142667,"version":"3.33.0"},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T00:00:00Z","timestamp":1719532800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100017785","name":"Pediatric Dermatology Research Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017785","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic testing is the gold standard for diagnosing different epidermolysis bullosa (EB) subtypes; however, testing rates are low. We conducted a pilot study to test feasibility of a novel, home\u2010based registry that involved patients with EB submitting self\u2010reported clinical symptoms using secure, online surveys (REDCap) and submitting buccal swabs for exome sequencing of EB\u2010related genes (GeneDx). In total, 50\u2009EB participants were enrolled, with an average age of 17\u2009years and an average distance of 198\u2009miles from EB specialty centers. All buccal swabs (<jats:italic>N<\/jats:italic>\u2009=\u200924) provided sufficient DNA for sequencing without causing mucosal trauma and 80% of participants were found to have pathogenic variants in <jats:italic>COL7A1<\/jats:italic>, the gene mutated in DEB. Participants with recessive dystrophic EB (RDEB) reported a higher prevalence of esophageal dilations (65.7% vs. 0%, <jats:italic>p<\/jats:italic>\u2009=\u2009.009) and mitten deformities of the feet (57.1% vs. 0%, <jats:italic>p<\/jats:italic>\u2009=\u2009.047) compared to non\u2010RDEB participants.<\/jats:p>","DOI":"10.1111\/pde.15682","type":"journal-article","created":{"date-parts":[[2024,6,29]],"date-time":"2024-06-29T06:38:30Z","timestamp":1719643110000},"page":"845-848","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Online, home\u2010based dystrophic epidermolysis bullosa registry"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-9486-889X","authenticated-orcid":false,"given":"Vaishali","family":"Mittal","sequence":"first","affiliation":[{"name":"Department of Dermatology Stanford University School of Medicine  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaron","family":"Nazaroff","sequence":"additional","affiliation":[{"name":"Department of Dermatology Stanford University School of Medicine  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward","family":"Eid","sequence":"additional","affiliation":[{"name":"Department of Dermatology Stanford University School of Medicine  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shufeng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Urology Stanford University School of Medicine  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleni","family":"Linos","sequence":"additional","affiliation":[{"name":"Department of Dermatology Stanford University School of Medicine  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Oro","sequence":"additional","affiliation":[{"name":"Department of Dermatology Stanford University School of Medicine  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean Y.","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Stanford University School of Medicine  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2021.09.065"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2018.4673"},{"volume-title":"GeneReviews\u00ae","year":"1993","author":"Pfendner EG","key":"e_1_2_7_4_1"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2016.2473"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.23970\/AHRQEPCREGISTRIES4"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15682","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T12:14:41Z","timestamp":1737116081000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15682"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,28]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1111\/pde.15682"],"URL":"https:\/\/doi.org\/10.1111\/pde.15682","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2024,6,28]]},"assertion":[{"value":"2024-01-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}