{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T14:40:02Z","timestamp":1745592002922,"version":"3.40.4"},"reference-count":6,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>Osteogenesis imperfecta (OI) is the most common genetic cause of osteoporosis, which presents as multiple fractures of bone. Mutations in the loci<jats:italic>COL1A1<\/jats:italic>on band 17q21 and<jats:italic>COL1A2<\/jats:italic>on band 7q22 have been reported as the cause in most cases of OI, but partial trisomy 15 has not been reported previously as a possible cause. A 3-month-old child with OI with an unusual association of partial trisomy 15 is reported.<\/jats:p>","DOI":"10.1136\/bcr.09.2008.1020","type":"journal-article","created":{"date-parts":[[2009,2,26]],"date-time":"2009-02-26T21:33:45Z","timestamp":1235684025000},"page":"bcr0920081020","source":"Crossref","is-referenced-by-count":1,"title":["Osteogenesis imperfecta with partial trisomy 15"],"prefix":"10.1136","volume":"2009","author":[{"given":"Rajniti","family":"Prasad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biswanath","family":"Basu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Utpal Kant","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Om Prakash","family":"Mishra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2009,2,26]]},"reference":[{"doi-asserted-by":"publisher","key":"2025042507272486000_2009.feb24_1.bcr0920081020.1","DOI":"10.1136\/jmg.24.7.386"},{"key":"2025042507272486000_2009.feb24_1.bcr0920081020.2","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1056\/NEJM199202203260807","article-title":"Mutations in collagen genes as a cause of connective tissue diseases","volume":"326","author":"Prockop","year":"1992","journal-title":"N Engl J Med"},{"doi-asserted-by":"publisher","key":"2025042507272486000_2009.feb24_1.bcr0920081020.3","DOI":"10.1097\/01.bpo.0000194697.21645.d3"},{"doi-asserted-by":"publisher","key":"2025042507272486000_2009.feb24_1.bcr0920081020.4","DOI":"10.1016\/j.cell.2006.08.039"},{"doi-asserted-by":"publisher","key":"2025042507272486000_2009.feb24_1.bcr0920081020.5","DOI":"10.1136\/jmg.11.4.400"},{"unstructured":"Breg WR Schredk RR Miller OJ . Familial partial trisomy 15 identification of a deleted no. 15 confirmed by anti-5-methylcytidine antibody binding. Presented at the 26th Annual Meeting of the American Society of Human Genetics, 1974: 19.","key":"2025042507272486000_2009.feb24_1.bcr0920081020.6"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.09.2008.1020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T14:27:35Z","timestamp":1745591255000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.09.2008.1020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":6,"alternative-id":["10.1136\/bcr.09.2008.1020"],"URL":"https:\/\/doi.org\/10.1136\/bcr.09.2008.1020","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2009]]}}}