{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:25:29Z","timestamp":1790807129503,"version":"4.1.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2009,6,24]],"date-time":"2009-06-24T00:00:00Z","timestamp":1245801600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2009,6,24]],"date-time":"2009-06-24T00:00:00Z","timestamp":1245801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2009,12]]},"DOI":"10.1038\/ejhg.2009.75","type":"journal-article","created":{"date-parts":[[2009,6,24]],"date-time":"2009-06-24T16:08:43Z","timestamp":1245859723000},"page":"1560-1569","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis"],"prefix":"10.1038","volume":"17","author":[{"given":"Fleur S","family":"Van Dijk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel M","family":"Nesbitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter G J","family":"Nikkels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Dalton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernie M H F","family":"Bongers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiddeke M","family":"van de Kamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Hilhorst-Hofstee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolette S","family":"Den Hollander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Augusta M A","family":"Lachmeijer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo L","family":"Marcelis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gita M B","family":"Tan-Sindhunata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rick R","family":"van Rijn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanne","family":"Meijers-Heijboer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan M","family":"Cobben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard","family":"Pals","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,6,24]]},"reference":[{"key":"BFejhg200975_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0940-9602(02)80023-1","volume":"184","author":"B Baljet","year":"2002","unstructured":"Baljet B : Aspects of the history of osteogenesis imperfecta (Vrolik's syndrome). Ann Anat 2002; 184: 1\u20137.","journal-title":"Ann Anat"},{"key":"BFejhg200975_CR2","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1136\/jmg.16.2.101","volume":"16","author":"DO Sillence","year":"1979","unstructured":"Sillence DO, Senn A, Danks DM : Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16: 101\u2013116.","journal-title":"J Med Genet"},{"key":"BFejhg200975_CR3","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1002\/ajmg.1320170204","volume":"17","author":"DO Sillence","year":"1984","unstructured":"Sillence DO, Barlow KK, Garber AP, Hall JG, Rimoin DL : Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 1984; 17: 407\u2013423.","journal-title":"Am J Med Genet"},{"key":"BFejhg200975_CR4","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1136\/jmg.24.7.386","volume":"24","author":"ID Young","year":"1987","unstructured":"Young ID, Thompson EM, Hall CM, Pembrey ME : Osteogenesis imperfecta type IIA: evidence for dominant inheritance. J Med Genet 1987; 24: 386\u2013389.","journal-title":"J Med Genet"},{"key":"BFejhg200975_CR5","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1136\/jmg.24.7.390","volume":"24","author":"EM Thompson","year":"1987","unstructured":"Thompson EM, Young ID, Hall CM, Pembrey ME : Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet 1987; 24: 390\u2013405.","journal-title":"J Med Genet"},{"key":"BFejhg200975_CR6","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1038\/304078a0","volume":"304","author":"ML Chu","year":"1983","unstructured":"Chu ML, Williams CJ, Pepe G, Hirsch JL, Prockop DJ, Ramirez F : Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature 1983; 304: 78\u201380.","journal-title":"Nature"},{"key":"BFejhg200975_CR7","first-page":"591","volume":"46","author":"DH Cohn","year":"1990","unstructured":"Cohn DH, Starman BJ, Blumberg B, Byers PH : Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am J Hum Genet 1990; 46: 591\u2013601.","journal-title":"Am J Hum Genet"},{"key":"BFejhg200975_CR8","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1007\/BF00200907","volume":"87","author":"L Cohen-Solal","year":"1991","unstructured":"Cohen-Solal L, Bonaventure J, Maroteaux P : Dominant mutations in familial lethal and severe osteogenesis imperfecta. Hum Genet 1991; 87: 297\u2013301.","journal-title":"Hum Genet"},{"key":"BFejhg200975_CR9","first-page":"237","volume":"42","author":"PH Byers","year":"1988","unstructured":"Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC : Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 1988; 42: 237\u2013248.","journal-title":"Am J Hum Genet"},{"key":"BFejhg200975_CR10","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1136\/jmg.28.7.433","volume":"28","author":"PH Byers","year":"1991","unstructured":"Byers PH, Wallis GA, Willing MC : Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 1991; 28: 433\u2013442.","journal-title":"J Med Genet"},{"key":"BFejhg200975_CR11","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1136\/jmg.30.6.492","volume":"30","author":"GA Wallis","year":"1993","unstructured":"Wallis GA, Sykes B, Byers PH, Mathew CG, Viljoen D, Beighton P : Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. J Med Genet 1993; 30: 492\u2013496.","journal-title":"J Med Genet"},{"key":"BFejhg200975_CR12","doi-asserted-by":"publisher","first-page":"1377","DOI":"10.1016\/S0140-6736(04)16051-0","volume":"363","author":"F Rauch","year":"2004","unstructured":"Rauch F, Glorieux FH : Osteogenesis imperfecta. Lancet 2004; 363: 1377\u20131385.","journal-title":"Lancet"},{"key":"BFejhg200975_CR13","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1016\/S8756-3282(02)00790-1","volume":"31","author":"LM Ward","year":"2002","unstructured":"Ward LM, Rauch F, Travers R et al: Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone 2002; 31: 12\u201318.","journal-title":"Bone"},{"key":"BFejhg200975_CR14","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1016\/j.cell.2006.08.039","volume":"127","author":"R Morello","year":"2006","unstructured":"Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M. et al. CRTAP is required for Prolyl 3-Hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 2006; 127: 291\u2013304","journal-title":"Cell"},{"key":"BFejhg200975_CR15","doi-asserted-by":"publisher","first-page":"2757","DOI":"10.1056\/NEJMoa063804","volume":"355","author":"AM Barnes","year":"2006","unstructured":"Barnes AM, Chang W, Morello R et al: Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 2006; 355: 2757\u20132764.","journal-title":"N Engl J Med"},{"key":"BFejhg200975_CR16","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1038\/ng1968","volume":"39","author":"WA Cabral","year":"2007","unstructured":"Cabral WA, Chang W, Barnes AM et al: Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal\/severe osteogenesis imperfecta. Nat Genet 2007; 39: 359\u2013365.","journal-title":"Nat Genet"},{"key":"BFejhg200975_CR17","doi-asserted-by":"publisher","first-page":"1675","DOI":"10.4161\/cc.6.14.4474","volume":"6","author":"JC Marini","year":"2007","unstructured":"Marini JC, Cabral WA, Barnes AM, Chang W : Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development. Cell Cycle 2007; 6: 1675\u20131681.","journal-title":"Cell Cycle"},{"key":"BFejhg200975_CR18","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1002\/ajmg.1320340112","volume":"34","author":"DJ Prockop","year":"1989","unstructured":"Prockop DJ, Constantinou CD, Dombrowski KE et al: Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue. Am J Med Genet 1989; 34: 60\u201367.","journal-title":"Am J Med Genet"},{"key":"BFejhg200975_CR19","doi-asserted-by":"publisher","first-page":"1341","DOI":"10.1242\/jcs.01731","volume":"118","author":"EG Canty","year":"2005","unstructured":"Canty EG, Kadler KE : Procollagen trafficking, processing and fibrillogenesis. J Cell Sci 2005; 118: 1341\u20131353.","journal-title":"J Cell Sci"},{"key":"BFejhg200975_CR20","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1002\/jcb.20605","volume":"96","author":"PC Trackman","year":"2005","unstructured":"Trackman PC : Diverse biological functions of extracellular collagen processing enzymes. J Cell Biochem 2005; 96: 927\u2013937.","journal-title":"J Cell Biochem"},{"key":"BFejhg200975_CR21","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1086\/301689","volume":"62","author":"J Korkko","year":"1998","unstructured":"Korkko J, la-Kokko L, De PA, Nuytinck L, Earley J, Prockop DJ : Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am J Hum Genet 1998; 62: 98\u2013110.","journal-title":"Am J Hum Genet"},{"key":"BFejhg200975_CR22","doi-asserted-by":"publisher","first-page":"1435","DOI":"10.1002\/humu.20799","volume":"29","author":"D Baldridge","year":"2008","unstructured":"Baldridge D, Schwarze U, Morello R et al: CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat 2008; 29: 1435\u20131442.","journal-title":"Hum Mutat"},{"key":"BFejhg200975_CR23","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1002\/jbmr.5650090618","volume":"9","author":"LD Spotila","year":"1994","unstructured":"Spotila LD, Colige A, Sereda L et al: Mutation analysis of coding sequences for type I procollagen in individuals with low bone density. J Bone Miner Res 1994; 9: 923\u2013932.","journal-title":"J Bone Miner Res"},{"key":"BFejhg200975_CR24","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1136\/jmg.33.11.968","volume":"33","author":"WG Cole","year":"1996","unstructured":"Cole WG, Chan D, Chow CW, Rogers JG, Bateman JF : Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen. J Med Genet 1996; 33: 968\u2013971.","journal-title":"J Med Genet"},{"key":"BFejhg200975_CR25","doi-asserted-by":"publisher","first-page":"2725","DOI":"10.1002\/ajmg.a.32508","volume":"146A","author":"AA Obafemi","year":"2008","unstructured":"Obafemi AA, Bulas DI, Troendle J, Marini JC : Popcorn calcifications in osteogenesis imperfecta: incidence, progression and molecular correlation. Am J Med Gen A Sept 2008; 146A: 2725\u20132732.","journal-title":"Am J Med Gen A Sept"},{"key":"BFejhg200975_CR26","first-page":"770","volume-title":"Fetal and Neonatal Pathology","author":"PGJ Nikkels","year":"2008","unstructured":"Nikkels PGJ : The skeletal system; in Keeling JW, Kong TY (eds): Fetal and Neonatal Pathology, 4 edn. Springer, 2008. pp 770\u2013795."}],"updated-by":[{"DOI":"10.1038\/ejhg.2009.137","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2009,11,19]],"date-time":"2009-11-19T00:00:00Z","timestamp":1258588800000}}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg200975.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg200975","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg200975.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:59:21Z","timestamp":1684429161000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg200975"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6,24]]},"references-count":26,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["BFejhg200975"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2009.75","relation":{"erratum":[{"id-type":"doi","id":"10.1038\/ejhg.2009.137","asserted-by":"object"}]},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6,24]]},"assertion":[{"value":"21 October 2008","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 January 2009","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 March 2009","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 June 2009","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}