{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T08:58:36Z","timestamp":1791536316512,"version":"4.3.4"},"reference-count":20,"publisher":"XMLink","issue":"Suppl 2","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":["anndermatol.org"],"crossmark-restriction":false},"short-container-title":["Ann Dermatol"],"published-print":{"date-parts":[[2023]]},"DOI":"10.5021\/ad.21.176","type":"journal-article","created":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T02:54:42Z","timestamp":1699239282000},"page":"S195","update-policy":"https:\/\/doi.org\/10.5021\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Missense Variant c.3301C&gt;T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous <i>COL7A1<\/i> Variants"],"prefix":"10.5021","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1966-0570","authenticated-orcid":false,"given":"Hyeok-Jin","family":"Kwon","sequence":"first","affiliation":[{"name":"Department of Dermatology, College of Medicine, Dong-A University, Busan, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1395-3981","authenticated-orcid":false,"given":"Dong-Wha","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Dermatology, College of Medicine, Dong-A University, Busan, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5756-1341","authenticated-orcid":false,"given":"Jung-Ho","family":"Yoon","sequence":"additional","affiliation":[{"name":"Department of Dermatology, College of Medicine, Dong-A University, Busan, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0844-5058","authenticated-orcid":false,"given":"Namhee","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, College of Medicine, Dong-A University, Busan, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5389-5053","authenticated-orcid":false,"given":"Ki-Ho","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Dermatology, College of Medicine, Dong-A University, Busan, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"18617","reference":[{"key":"10.5021\/ad.21.176_ref1","doi-asserted-by":"crossref","first-page":"S29","DOI":"10.1007\/s00403-002-0369-0","volume":"295 Suppl 1","author":"Mitsuhashi","year":"2003","journal-title":"Arch Dermatol Res"},{"key":"10.5021\/ad.21.176_ref2","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1111\/j.1600-0625.2008.00723.x","volume":"17","author":"Dang","year":"2008","journal-title":"Exp Dermatol"},{"key":"10.5021\/ad.21.176_ref3","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1136\/jmg.2006.045302","volume":"44","author":"Varki","year":"2007","journal-title":"J Med Genet"},{"key":"10.5021\/ad.21.176_ref4","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/cge.13792","volume":"99","author":"Mariath","year":"2021","journal-title":"Clin Genet"},{"key":"10.5021\/ad.21.176_ref5","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1111\/bjd.18128","volume":"182","author":"Has","year":"2020","journal-title":"Br J Dermatol"},{"key":"10.5021\/ad.21.176_ref6","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1111\/j.1600-0625.1999.tb00362.x","volume":"8","author":"Hashimoto","year":"1999","journal-title":"Exp Dermatol"},{"key":"10.5021\/ad.21.176_ref7","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s40257-015-0119-7","volume":"16","author":"Kim","year":"2015","journal-title":"Am J Clin Dermatol"},{"key":"10.5021\/ad.21.176_ref8","doi-asserted-by":"crossref","first-page":"50","DOI":"10.2340\/00015555-1178","volume":"92","author":"Jiang","year":"2012","journal-title":"Acta Derm Venereol"},{"key":"10.5021\/ad.21.176_ref9","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1006\/geno.1994.1238","volume":"21","author":"Christiano","year":"1994","journal-title":"Genomics"},{"key":"10.5021\/ad.21.176_ref10","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1111\/j.1365-2133.2005.06542.x","volume":"152","author":"Csik\u00f3s","year":"2005","journal-title":"Br J Dermatol"},{"key":"10.5021\/ad.21.176_ref11","doi-asserted-by":"crossref","first-page":"6","DOI":"10.5021\/ad.2016.28.1.6","volume":"28","author":"Jeon","year":"2016","journal-title":"Ann Dermatol"},{"key":"10.5021\/ad.21.176_ref12","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1111\/j.1365-2133.2007.08191.x","volume":"157","author":"Oh","year":"2007","journal-title":"Br J Dermatol"},{"key":"10.5021\/ad.21.176_ref13","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1038\/sj.jid.5700219","volume":"126","author":"Kern","year":"2006","journal-title":"J Invest Dermatol"},{"key":"10.5021\/ad.21.176_ref14","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1046\/j.1523-1747.1999.00732.x","volume":"113","author":"Whittock","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.5021\/ad.21.176_ref15","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.5021\/ad.21.176_ref16","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.bbrc.2012.11.119","volume":"430","author":"Wegener","year":"2013","journal-title":"Biochem Biophys Res Commun"},{"key":"10.5021\/ad.21.176_ref17","doi-asserted-by":"crossref","first-page":"24506","DOI":"10.1074\/jbc.M802415200","volume":"283","author":"Villone","year":"2008","journal-title":"J Biol Chem"},{"key":"10.5021\/ad.21.176_ref18","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1002\/2211-5463.12807","volume":"10","author":"Gebauer","year":"2020","journal-title":"FEBS Open Bio"},{"key":"10.5021\/ad.21.176_ref19","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1172\/JCI116774","volume":"92","author":"Lapiere","year":"1993","journal-title":"J Clin Invest"},{"key":"10.5021\/ad.21.176_ref20","doi-asserted-by":"crossref","first-page":"91","DOI":"10.3109\/08916934.2011.606450","volume":"45","author":"Chen","year":"2012","journal-title":"Autoimmunity"}],"container-title":["Annals of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/anndermatol.org\/pdf\/10.5021\/ad.21.176","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/anndermatol.org\/DOIx.php?id=10.5021\/ad.21.176","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/anndermatol.org\/DOIx.php?id=10.5021\/ad.21.176","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,24]],"date-time":"2023-11-24T01:10:17Z","timestamp":1700788217000},"score":1,"resource":{"primary":{"URL":"https:\/\/anndermatol.org\/DOIx.php?id=10.5021\/ad.21.176"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":20,"journal-issue":{"issue":"Suppl 2","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.5021\/ad.21.176","relation":{},"ISSN":["1013-9087","2005-3894"],"issn-type":[{"value":"1013-9087","type":"print"},{"value":"2005-3894","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023]]},"assertion":[{"value":"2021-08-26","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-23","name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-12","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-27","name":"published_online","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"Copyright \u00a9 The Korean Dermatological Association and The Korean Society for Investigative Dermatology","name":"copyright","label":"Copyright","group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:\/\/creativecommons.org\/licenses\/by-nc\/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.","name":"license","label":"License","explanation":{"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},"group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}}]}}