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We detected a homozygous genomic deletion of <jats:italic>CREB3L1<\/jats:italic> in a family with severe OI. <jats:italic>CREB3L1<\/jats:italic> encodes OASIS, an endoplasmic reticulum-stress transducer that regulates type I procollagen expression during murine bone formation. This is the first report linking <jats:italic>CREB3L1<\/jats:italic> to human recessive OI, thereby expanding the OI gene spectrum.<\/jats:p>","DOI":"10.1186\/1750-1172-8-154","type":"journal-article","created":{"date-parts":[[2013,10,1]],"date-time":"2013-10-01T00:23:42Z","timestamp":1380587022000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":108,"title":["Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans"],"prefix":"10.1186","volume":"8","author":[{"given":"Sofie","family":"Symoens","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fransiska","family":"Malfait","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanne","family":"D\u2019hondt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert","family":"Callewaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annelies","family":"Dheedene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter","family":"Steyaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans Peter","family":"B\u00e4chinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"De Paepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hulya","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J","family":"Coucke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,9,30]]},"reference":[{"key":"647_CR1","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1038\/nrendo.2011.81","volume":"7","author":"A Forlino","year":"2011","unstructured":"Forlino A, Cabral WA, Barnes AM, Marini JC: New perspectives on osteogenesis imperfecta. 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