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This gene encodes the three subunit of integrin 3\u03b21, which plays an important role in the structure and function of keratinocytes. We analysed compound heterozygous mutations in a patient, observing clinical features that mirrored some but not all previously reported ILNEB cases. These findings suggested that the mutations in this patient shared a common loss\u2010of\u2010function mechanism. This case expands the current understanding of the genotype\u2013phenotype correlations in ILNEB.<\/jats:p>","DOI":"10.1111\/ajd.14443","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T13:59:21Z","timestamp":1741701561000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel Compound Heterozygous Mutations in ILNEB Syndrome"],"prefix":"10.1111","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1039-9583","authenticated-orcid":false,"given":"Hannah","family":"Wu","sequence":"first","affiliation":[{"name":"College of Medicine University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khiem A.","family":"Tran","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Gawey","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Washington  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madison","family":"Stokes","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joshua","family":"Hekmatjah","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jay","family":"Kincannon","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M412701200"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2023.10.007"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104335"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010016\u20100514\u2010z"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1110813"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2015.11.031"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13312-020-1767-0"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2021.03.029"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI64100"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/ddg.14381"}],"container-title":["Australasian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ajd.14443","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T05:26:19Z","timestamp":1746768379000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ajd.14443"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,28]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1111\/ajd.14443"],"URL":"https:\/\/doi.org\/10.1111\/ajd.14443","archive":["Portico"],"relation":{},"ISSN":["0004-8380","1440-0960"],"issn-type":[{"value":"0004-8380","type":"print"},{"value":"1440-0960","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,28]]},"assertion":[{"value":"2025-01-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}