{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T12:19:08Z","timestamp":1773922748916,"version":"3.50.1"},"reference-count":108,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,7,12]],"date-time":"2012-07-12T00:00:00Z","timestamp":1342051200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2012,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta (OI) or \u201cbrittle bone disease\u201d is currently best described as a group of hereditary connective tissue disorders related to primary defects in type I procollagen, and to alterations in type I procollagen biosynthesis, both associated with osteoporosis and increased susceptibility to bone fractures. Initially, the autosomal dominant forms of OI, caused by mutations in either <jats:italic>COL1A1<\/jats:italic> or <jats:italic>COL1A2<\/jats:italic>, were described. However, for decades, the molecular defect of a small percentage of patients clinically diagnosed with OI has remained elusive. It has been in the last 6 years that the genetic causes of several forms of OI with autosomal recessive inheritance have been characterized. These comprise defects of collagen chaperones, and proteins involved in type I procollagen assembly, processing and maturation, as well as proteins involved in the formation and homeostasis of bone tissue. This article reviews the recently characterized forms of recessive OI, focusing in particular on their clinical and molecular findings, and on their radiological characterisation. Clinical management and treatment of OI in general will be discussed, too. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.31334","type":"journal-article","created":{"date-parts":[[2012,7,13]],"date-time":"2012-07-13T17:49:58Z","timestamp":1342201798000},"page":"175-189","source":"Crossref","is-referenced-by-count":53,"title":["Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings"],"prefix":"10.1002","volume":"160C","author":[{"given":"Marianne","family":"Rohrbach","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"Giunta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,7,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2009.11.139"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.022"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34269"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)70077-X"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.03.013"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-10-0208"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.026"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20799"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0010560"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35246"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3109\/03008200903108472"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa063804"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0907705"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.015"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00823.x"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb02282.x"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn374"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8175.2009.00973.x"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/01202412-199801000-00006"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2009.22.1.55"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1968"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.44"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.01731"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mt.6300339"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp481"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.12.2603"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000750"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.034"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.2388"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm870"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000579"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bb.20.060191.001033"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.1.133"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.81"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348949710600709"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1359\/JBMR.041232"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.001"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199810013391402"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2002.17.1.30"},{"key":"e_1_2_9_41_1","first-page":"146","article-title":"Osteoporosis\u2013pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12\u201013","volume":"59","author":"Gong Y","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00571-2"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/25.17.3451"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20071"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.487"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.73.1.54"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/6529"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.5.1227"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1331\/108658003321480759"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M802535200"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.007070"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.250"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M509707200"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M601369200"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051322"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2006.10.010"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.05.016"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21475"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-2104(96)80048-5"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-263X.2010.01033.x"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0001029"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2010.11.007"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1080\/000163502753509446"},{"key":"e_1_2_9_64_1","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1001\/jama.1997.03540330068037","article-title":"Osteogenesis imperfecta. Rehabilitation and prospects for gene therapy","volume":"277","author":"Marini JC","year":"1997","journal-title":"JAMA"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450223"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.76.1.251"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2003.18.2.237"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.14.4474"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-009-0872-0"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-007-0023-z"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21647"},{"key":"e_1_2_9_72_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.49.8.627"},{"key":"e_1_2_9_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2007.10.051"},{"key":"e_1_2_9_74_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201230"},{"key":"e_1_2_9_75_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2005.04.006"},{"key":"e_1_2_9_76_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.08.039"},{"key":"e_1_2_9_77_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2003.11.004"},{"key":"e_1_2_9_78_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00622-5"},{"key":"e_1_2_9_79_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R109.018481"},{"key":"e_1_2_9_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-2104(99)70272-6"},{"key":"e_1_2_9_81_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.161"},{"key":"e_1_2_9_82_1","doi-asserted-by":"publisher","DOI":"10.3109\/01050398409043042"},{"key":"e_1_2_9_83_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD005088.pub2"},{"key":"e_1_2_9_84_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.64.070195.002155"},{"key":"e_1_2_9_85_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr037"},{"key":"e_1_2_9_86_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199410000-00005"},{"key":"e_1_2_9_87_1","first-page":"123","volume-title":"Chorion villus sampling","author":"Raghunath M","year":"1998"},{"key":"e_1_2_9_88_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"e_1_2_9_89_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399407000385"},{"key":"e_1_2_9_90_1","unstructured":"RohrbachM GiuntaC.2012. Improving diagnostic in osteogenesis imperfecta."},{"key":"e_1_2_9_91_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.05.020"},{"key":"e_1_2_9_92_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)90763-8"},{"key":"e_1_2_9_93_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"e_1_2_9_94_1","first-page":"216","article-title":"Mortality in various types of osteogenesis imperfecta","volume":"33","author":"Singer RB","year":"2001","journal-title":"J Insur Med"},{"key":"e_1_2_9_95_1","first-page":"666","article-title":"Small\u2010molecule modulation of cellular chaperones to treat protein misfolding disorders","volume":"12","author":"Sloan LA","year":"2009","journal-title":"Curr Opin Drug Discov Dev"},{"key":"e_1_2_9_96_1","first-page":"1505","article-title":"Urinary pyridinoline cross\u2010links in Ehlers\u2013Danlos syndrome type VI","volume":"57","author":"Steinmann B","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_97_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35327"},{"key":"e_1_2_9_98_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.75"},{"key":"e_1_2_9_99_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.001"},{"key":"e_1_2_9_100_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.141"},{"key":"e_1_2_9_101_1","doi-asserted-by":"publisher","DOI":"10.1016\/S8756-3282(99)00186-6"},{"key":"e_1_2_9_102_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270417"},{"key":"e_1_2_9_103_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.102228"},{"key":"e_1_2_9_104_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118434"},{"key":"e_1_2_9_105_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"},{"key":"e_1_2_9_106_1","first-page":"975","article-title":"Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta","volume":"46","author":"Wenstrup RJ","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_107_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-199908150-00008"},{"key":"e_1_2_9_108_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.062729"},{"key":"e_1_2_9_109_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02926.x"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31334","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31334","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T19:56:40Z","timestamp":1694462200000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31334"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,12]]},"references-count":108,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,8,15]]}},"alternative-id":["10.1002\/ajmg.c.31334"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31334","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,12]]}}}