{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T23:09:32Z","timestamp":1789945772144,"version":"4.0.1"},"reference-count":17,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,9,14]],"date-time":"2018-09-14T00:00:00Z","timestamp":1536883200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bone Reports"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1016\/j.bonr.2018.09.002","type":"journal-article","created":{"date-parts":[[2018,9,15]],"date-time":"2018-09-15T21:54:38Z","timestamp":1537048478000},"page":"132-135","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations"],"prefix":"10.1016","volume":"9","author":[{"given":"Adolfredo","family":"Santana","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne M.","family":"Franzone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina M.","family":"McGreal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard W.","family":"Kruse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael B.","family":"Bober","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"12","key":"10.1016\/j.bonr.2018.09.002_bb1000","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1002\/humu.20799","article-title":"CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta","volume":"29","author":"Baldridge","year":"2008","journal-title":"Hum. Mutat."},{"issue":"26","key":"10.1016\/j.bonr.2018.09.002_bb0005","doi-asserted-by":"crossref","first-page":"2757","DOI":"10.1056\/NEJMoa063804","article-title":"Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta","volume":"355","author":"Barnes","year":"2006","journal-title":"N. Engl. J. Med."},{"issue":"6","key":"10.1016\/j.bonr.2018.09.002_bb2000","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1056\/NEJMoa0907705","article-title":"Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding","volume":"362","author":"Barnes","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bonr.2018.09.002_bb0010","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1146\/annurev-genet-110711-155608","article-title":"Recessively inherited forms of osteogenesis imperfecta","volume":"46","author":"Byers","year":"2012","journal-title":"Annu. Rev. Genet."},{"issue":"5","key":"10.1016\/j.bonr.2018.09.002_bb0015","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1038\/gim.2011.44","article-title":"A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta","volume":"14","author":"Cabral","year":"2012","journal-title":"Genetics in Medicine"},{"issue":"3","key":"10.1016\/j.bonr.2018.09.002_bb0020","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/ng1968","article-title":"Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal\/severe osteogenesis imperfecta","volume":"39","author":"Cabral","year":"2007","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.bonr.2018.09.002_bb0025","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.ajhg.2009.09.001","article-title":"PPIB mutations cause severe osteogenesis imperfecta","volume":"85","author":"van Dijk","year":"2009","journal-title":"Am. J. Hum. Genet."},{"issue":"10028","key":"10.1016\/j.bonr.2018.09.002_bb0030","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet"},{"issue":"14","key":"10.1016\/j.bonr.2018.09.002_bb0035","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1056\/NEJM199810013391402","article-title":"Cyclic administration of pamidronate in children with severe osteogenesis imperfecta","volume":"339","author":"Glorieux","year":"2008","journal-title":"New. Eng. J. Med."},{"issue":"6","key":"10.1016\/j.bonr.2018.09.002_bb0040","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.229102","article-title":"The human genome browser at UCSC","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res."},{"issue":"D1","key":"10.1016\/j.bonr.2018.09.002_bb0045","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res."},{"issue":"2","key":"10.1016\/j.bonr.2018.09.002_bb0050","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.cell.2006.08.039","article-title":"CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta","volume":"127","author":"Morello","year":"2006","journal-title":"Cell"},{"issue":"4","key":"10.1016\/j.bonr.2018.09.002_bb0055","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/mgg3.21","article-title":"Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations","volume":"1","author":"Pepin","year":"2013","journal-title":"Mol. Genet. Genomic Med."},{"issue":"5","key":"10.1016\/j.bonr.2018.09.002_bb0060","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0036809","article-title":"A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta","volume":"7","author":"Takagi","year":"2012","journal-title":"PLoS One"},{"issue":"6","key":"10.1016\/j.bonr.2018.09.002_bb0065","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1002\/ajmg.a.36545","article-title":"Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment","volume":"164A","author":"Van Dijk","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"issue":"4","key":"10.1016\/j.bonr.2018.09.002_bb0070","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1136\/jmg.2008.062729","article-title":"Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation","volume":"46","author":"Willaert","year":"2009","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.bonr.2018.09.002_bb0075","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s00774-011-0284-6","article-title":"The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta","volume":"30","author":"Zhang","year":"2012","journal-title":"J. Bone Miner. Metab."}],"updated-by":[{"DOI":"10.1016\/j.bonr.2021.101085","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000}}],"container-title":["Bone Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352187218300494?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352187218300494?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,11,23]],"date-time":"2020-11-23T14:53:19Z","timestamp":1606143199000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352187218300494"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":17,"alternative-id":["S2352187218300494"],"URL":"https:\/\/doi.org\/10.1016\/j.bonr.2018.09.002","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.bonr.2021.101085","asserted-by":"object"}]},"ISSN":["2352-1872"],"issn-type":[{"value":"2352-1872","type":"print"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations","name":"articletitle","label":"Article Title"},{"value":"Bone Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bonr.2018.09.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}