{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T10:04:29Z","timestamp":1789639469837,"version":"4.0.0"},"reference-count":14,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2021,9,15]],"date-time":"2021-09-15T00:00:00Z","timestamp":1631664000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100011960","name":"DEBRA International","doi-asserted-by":"crossref","award":["080-13000-U18901"],"award-info":[{"award-number":["080-13000-U18901"]}],"id":[{"id":"10.13039\/501100011960","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,10,20]]},"DOI":"10.1093\/ibd\/izab141","type":"journal-article","created":{"date-parts":[[2021,9,15]],"date-time":"2021-09-15T17:30:25Z","timestamp":1631727025000},"page":"1865-1869","source":"Crossref","is-referenced-by-count":4,"title":["Very-Early-Onset Inflammatory Bowel Disease in a Patient With Junctional Epidermolysis Bullosa With a Homozygous Mutation in the \u03b16 Integrin Gene (<i>ITGA6<\/i>)"],"prefix":"10.1093","volume":"27","author":[{"given":"Hassan","family":"Vahidnezhad","sequence":"first","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University , Philadelphia, Pennsylvania , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Youssefian","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University , Philadelphia, Pennsylvania , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Hossein","family":"Anbardar","sequence":"additional","affiliation":[{"name":"Department of Pathology, Shiraz University of Medical Sciences , Shiraz, Fars , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirous","family":"Zeinali","sequence":"additional","affiliation":[{"name":"Kawsar Human Genetics Research Center , Tehran , Iran"},{"name":"Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran , Tehran , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahele A","family":"Farahani","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic , Rochester, Minnesota , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4639-807X","authenticated-orcid":false,"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University , Philadelphia, Pennsylvania , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,9,15]]},"reference":[{"key":"2022092120035950400_CIT0001","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1093\/ibd\/izx090","article-title":"Mendelian diseases and inflammatory bowel disease\u2014data mining for genetic risk and disease-associated confounders","volume":"24","author":"Uhlig","year":"2018","journal-title":"Inflamm Bowel Dis."},{"key":"2022092120035950400_CIT0002","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1016\/j.jid.2018.10.017","article-title":"Phenotypic spectrum of epidermolysis bullosa: the paradigm of syndromic versus non-syndromic skin fragility disorders","volume":"139","author":"Vahidnezhad","year":"2019","journal-title":"J Invest Dermatol."},{"key":"2022092120035950400_CIT0003","doi-asserted-by":"crossref","DOI":"10.1111\/bjd.18921","article-title":"Consensus re-classification of inherited epidermolysis bullosa and other disorders with skin fragility","author":"Has","year":"2020;183:614\u2013627","journal-title":"Br J Dermatol."},{"key":"2022092120035950400_CIT0004","first-page":"360","article-title":"Monogenic intestinal epithelium defects and the development of inflammatory bowel disease","volume":"33","author":"Leung","year":"2018","journal-title":"Physiology (Bethesda)."},{"key":"2022092120035950400_CIT0005","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1111\/ced.12114","article-title":"Epidermolysis bullosa acquisita and inflammatory bowel disease: a review of the literature","volume":"38","author":"Reddy","year":"2013","journal-title":"Clin Exp Dermatol."},{"key":"2022092120035950400_CIT0006","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1016\/j.jid.2018.06.170","article-title":"Research techniques made simple: genome-wide homozygosity\/autozygosity mapping is a powerful tool for identifying candidate genes in autosomal recessive genetic diseases","volume":"138","author":"Vahidnezhad","year":"2018","journal-title":"J Invest Dermatol."},{"key":"2022092120035950400_CIT0007","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1111\/bjd.12317","article-title":"Phenotypic spectrum of epidermolysis bullosa associated with \u03b16\u03b24 integrin mutations","volume":"169","author":"Schumann","year":"2013","journal-title":"Br J Dermatol."},{"key":"2022092120035950400_CIT0008","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1046\/j.1365-2133.2001.04038.x","article-title":"Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia","volume":"144","author":"Ashton","year":"2001","journal-title":"Br J Dermatol."},{"key":"2022092120035950400_CIT0009","doi-asserted-by":"crossref","first-page":"2826","DOI":"10.1172\/JCI119474","article-title":"A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia","volume":"99","author":"Ruzzi","year":"1997","journal-title":"J Clin Invest."},{"key":"2022092120035950400_CIT0010","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1093\/hmg\/6.5.669","article-title":"Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia","volume":"6","author":"Pulkkinen","year":"1997","journal-title":"Hum Mol Genet."},{"key":"2022092120035950400_CIT0011","doi-asserted-by":"crossref","first-page":"1748","DOI":"10.1136\/gutjnl-2015-310847","article-title":"Hemidesmosome integrity protects the colon against colitis and colorectal cancer","volume":"66","author":"De Arcangelis","year":"2017","journal-title":"Gut."},{"key":"2022092120035950400_CIT0012","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1097\/00005176-199910000-00005","article-title":"Isolated deficient alpha6beta4 integrin expression in the gut associated with intractable diarrhea","volume":"29","author":"Lachaux","year":"1999","journal-title":"J Pediatr Gastroenterol Nutr."},{"key":"2022092120035950400_CIT0013","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1086\/302116","article-title":"Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense","volume":"63","author":"Pulkkinen","year":"1998","journal-title":"Am J Hum Genet."},{"key":"2022092120035950400_CIT0014","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1111\/j.1523-1747.2003.12625.x","article-title":"Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia","volume":"121","author":"Allegra","year":"2003","journal-title":"J Invest Dermatol."}],"container-title":["Inflammatory Bowel Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ibdjournal\/article-pdf\/27\/11\/1865\/45952972\/izab141.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ibdjournal\/article-pdf\/27\/11\/1865\/45952972\/izab141.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,21]],"date-time":"2022-09-21T20:04:19Z","timestamp":1663790659000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ibdjournal\/article\/27\/11\/1865\/6370826"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,15]]},"references-count":14,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2021,9,15]]},"published-print":{"date-parts":[[2021,10,20]]}},"URL":"https:\/\/doi.org\/10.1093\/ibd\/izab141","relation":{},"ISSN":["1078-0998","1536-4844"],"issn-type":[{"value":"1078-0998","type":"print"},{"value":"1536-4844","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,11,1]]},"published":{"date-parts":[[2021,9,15]]}}}