{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T20:03:57Z","timestamp":1758398637951,"version":"3.40.5"},"reference-count":16,"publisher":"XMLink","issue":"9","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["eymj.org"],"crossmark-restriction":false},"short-container-title":["Yonsei Med J"],"published-print":{"date-parts":[[2020]]},"DOI":"10.3349\/ymj.2020.61.9.831","type":"journal-article","created":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T05:26:46Z","timestamp":1599024406000},"page":"831","update-policy":"https:\/\/doi.org\/10.3349\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities"],"prefix":"10.3349","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9888-3902","authenticated-orcid":false,"given":"Dae San","family":"Yoo","sequence":"first","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Research Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6027-8659","authenticated-orcid":false,"given":"Seung-Ju","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Research Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7369-7310","authenticated-orcid":false,"given":"Song-Ee","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Research Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2327-4755","authenticated-orcid":false,"given":"Soo-Chan","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4720-9955","authenticated-orcid":false,"given":"Sang Eun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Research Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"18617","reference":[{"key":"10.3349\/ymj.2020.61.9.831_ref1","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/S1525-1578(10)60005-0","volume":"7","author":"Nakamura","year":"2005","journal-title":"J Mol Diagn"},{"key":"10.3349\/ymj.2020.61.9.831_ref2","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1111\/j.1523-1747.2003.12639.x","volume":"121","author":"Charlesworth","year":"2003","journal-title":"J Invest Dermatol"},{"key":"10.3349\/ymj.2020.61.9.831_ref3","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1083\/jcb.142.1.271","volume":"142","author":"Schaapveld","year":"1998","journal-title":"J Cell Biol"},{"key":"10.3349\/ymj.2020.61.9.831_ref4","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.det.2009.10.005","volume":"28","author":"Chung","year":"2010","journal-title":"Dermatol Clin"},{"key":"10.3349\/ymj.2020.61.9.831_ref5","doi-asserted-by":"crossref","first-page":"438","DOI":"10.2340\/00015555-0484","volume":"88","author":"Dang","year":"2008","journal-title":"Acta Derm Venereol"},{"key":"10.3349\/ymj.2020.61.9.831_ref6","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1091\/mbc.e03-09-0697","volume":"15","author":"Koster","year":"2004","journal-title":"Mol Biol Cell"},{"key":"10.3349\/ymj.2020.61.9.831_ref7","first-page":"e200","volume":"34","author":"Wang","year":"2020","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"10.3349\/ymj.2020.61.9.831_ref8","doi-asserted-by":"crossref","first-page":"411","DOI":"10.3349\/ymj.2000.41.3.411","volume":"41","author":"Kim","year":"2000","journal-title":"Yonsei Med J"},{"key":"10.3349\/ymj.2020.61.9.831_ref9","doi-asserted-by":"crossref","first-page":"e203","DOI":"10.1111\/1346-8138.14236","volume":"45","author":"Hattori","year":"2018","journal-title":"J Dermatol"},{"key":"10.3349\/ymj.2020.61.9.831_ref10","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.0906-6705.2004.00107.x","volume":"13","author":"Masunaga","year":"2004","journal-title":"Exp Dermatol"},{"key":"10.3349\/ymj.2020.61.9.831_ref11","doi-asserted-by":"crossref","first-page":"7","DOI":"10.17140\/DRMTOJ-4-134","volume":"4","author":"Yoshihara","year":"2019","journal-title":"Dermatol Open J"},{"key":"10.3349\/ymj.2020.61.9.831_ref12","unstructured":"National Center for Biotechnology Information. ClinVar; VCV000202108.5. accessed on 2020 March 18. Available at: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000202108.5"},{"key":"10.3349\/ymj.2020.61.9.831_ref13","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1046\/j.1523-1747.2002.19609.x","volume":"119","author":"Jonkman","year":"2002","journal-title":"J Invest Dermatol"},{"key":"10.3349\/ymj.2020.61.9.831_ref14","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1093\/hmg\/8.11.2097","volume":"8","author":"Chavanas","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.3349\/ymj.2020.61.9.831_ref15","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1016\/0022-3468(91)90616-2","volume":"26","author":"Hayashi","year":"1991","journal-title":"J Pediatr Surg"},{"key":"10.3349\/ymj.2020.61.9.831_ref16","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1046\/j.1365-2133.1998.02515.x","volume":"139","author":"Mellerio","year":"1998","journal-title":"Br J Dermatol"}],"container-title":["Yonsei Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/eymj.org\/pdf\/10.3349\/ymj.2020.61.9.831","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eymj.org\/DOIx.php?id=10.3349\/ymj.2020.61.9.831","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eymj.org\/DOIx.php?id=10.3349\/ymj.2020.61.9.831","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T05:32:12Z","timestamp":1599024732000},"score":1,"resource":{"primary":{"URL":"https:\/\/eymj.org\/DOIx.php?id=10.3349\/ymj.2020.61.9.831"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":16,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020]]}},"URL":"https:\/\/doi.org\/10.3349\/ymj.2020.61.9.831","relation":{},"ISSN":["0513-5796","1976-2437"],"issn-type":[{"type":"print","value":"0513-5796"},{"type":"electronic","value":"1976-2437"}],"subject":[],"published":{"date-parts":[[2020]]},"assertion":[{"value":"2020-04-03","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-01","name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-20","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-27","name":"published_online","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"\u00a9 Copyright: Yonsei University College of Medicine 2020","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 (https:\/\/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":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},"group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}}]}}