{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T01:58:38Z","timestamp":1789437518490,"version":"build-2803163510"},"reference-count":12,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2012,1]]},"DOI":"10.1016\/j.ejmg.2011.10.002","type":"journal-article","created":{"date-parts":[[2011,10,26]],"date-time":"2011-10-26T10:26:03Z","timestamp":1319624763000},"page":"17-21","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":29,"title":["A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient"],"prefix":"10.1016","volume":"55","author":[{"given":"E.D.","family":"Setijowati","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.S.","family":"van Dijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.M.","family":"Cobben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.R.","family":"van Rijn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.A.","family":"Sistermans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.M.H.","family":"Faradz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Kawiyana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Pals","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2011.10.002_bib1","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/(SICI)1096-8628(19970502)70:1<28::AID-AJMG6>3.0.CO;2-N","article-title":"Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case","volume":"70","author":"McPherson","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2011.10.002_bib2","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1111\/j.1399-0004.1989.tb03174.x","article-title":"Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome)","volume":"36","author":"Viljoen","year":"1989","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2011.10.002_bib3","doi-asserted-by":"crossref","first-page":"40967","DOI":"10.1074\/jbc.M307380200","article-title":"Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis","volume":"278","author":"van der Slot","year":"2003","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ejmg.2011.10.002_bib4","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1097\/01202412-199801000-00006","article-title":"Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures","volume":"7","author":"Breslau-Siderius","year":"1998","journal-title":"J.\u00a0Pediatr. Orthop. B"},{"key":"10.1016\/j.ejmg.2011.10.002_bib5","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1073\/pnas.96.3.1054","article-title":"Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17","volume":"96","author":"Bank","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ejmg.2011.10.002_bib6","doi-asserted-by":"crossref","first-page":"30917","DOI":"10.1074\/jbc.M109.021238","article-title":"Missense mutations that cause Bruck syndrome affect enzymatic activity, folding, and oligomerization of lysyl hydroxylase 2","volume":"284","author":"Hyry","year":"2009","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ejmg.2011.10.002_bib7","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/ajmg.a.30231","article-title":"Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2","volume":"131","author":"Ha-Vinh","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2011.10.002_bib8","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.ajhg.2010.02.022","article-title":"Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta","volume":"86","author":"Alanay","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2011.10.002_bib9","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.ajhg.2010.05.020","article-title":"FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?","volume":"87","author":"Shaheen","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2011.10.002_bib10","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1002\/jbmr.250","article-title":"Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome","volume":"26","author":"Kelley","year":"2011","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ejmg.2011.10.002_bib11","doi-asserted-by":"crossref","first-page":"31584","DOI":"10.1074\/jbc.M802535200","article-title":"The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens","volume":"283","author":"Ishikawa","year":"2008","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ejmg.2011.10.002_bib12","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.1002\/ajmg.a.34025","article-title":"Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans","volume":"155","author":"Shaheen","year":"2011","journal-title":"Am. J. Med. Gen. A"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721211001170?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721211001170?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:38:41Z","timestamp":1761709121000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721211001170"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["S1769721211001170"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2011.10.002","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2012,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2011.10.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}