{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:30:11Z","timestamp":1777937411813,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2017,1,25]],"date-time":"2017-01-25T00:00:00Z","timestamp":1485302400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:p>Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility. Its severity ranges from nearly asymptomatic individuals to perinatal lethality. The majority of cases are caused by mutations in either the COL1A1 or the COL1A2 gene coding for alpha 1 and alpha 2 chains of collagen type 1, respectively, and a large number of pathogenic variants of these genes has been identified. We describe a novel COL1A1 mutation associated with prenatally diagnosed severe form of osteogenesis imperfecta.<\/jats:p>","DOI":"10.1177\/1093526616686903","type":"journal-article","created":{"date-parts":[[2017,8,16]],"date-time":"2017-08-16T11:34:51Z","timestamp":1502883291000},"page":"455-459","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel COL1A1 Mutation c.3290G&gt;T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus"],"prefix":"10.1177","volume":"20","author":[{"given":"Laura","family":"Tanner","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Turku University Hospital, Turku, Finland"},{"name":"Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Vainio","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Turku, Turku, Finland"},{"name":"Pathology Unit, Public Utility Tyks-Sapa, Turku, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minna","family":"Sandell","sequence":"additional","affiliation":[{"name":"Department of Radiology, University of Turku, Turku, Finland"},{"name":"Radiology Unit, Public Utility Tyks-Sapa, Turku, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jukka","family":"Laine","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Turku, Turku, Finland"},{"name":"Pathology Unit, Public Utility Tyks-Sapa, Turku, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2017,1,25]]},"reference":[{"key":"bibr1-1093526616686903","unstructured":"Osteogenesis Imperfecta Variant Database. https:\/\/oi.gene.le.ac.uk\/home.php?select_db=COL1A1. Accessed 20 December 2016."},{"key":"bibr2-1093526616686903","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36545"},{"key":"bibr3-1093526616686903","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.10.007"},{"key":"bibr4-1093526616686903","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170204"},{"key":"bibr5-1093526616686903","first-page":"237","volume":"42","author":"Byers PH","year":"1988","journal-title":"Am J Hum Genet"},{"key":"bibr6-1093526616686903","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1193"},{"key":"bibr7-1093526616686903","doi-asserted-by":"publisher","DOI":"10.1021\/bi800026k"},{"key":"bibr8-1093526616686903","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn374"},{"key":"bibr9-1093526616686903","doi-asserted-by":"crossref","unstructured":"Wang W, Wu Q, Cao L, et\u00a0al. Mutation analysis of COL1A1 and COL1A2 in fetuses with osteogenesis imperfecta type II\/III [published online ahead of print January 27, 2015].\n                      Gynecol Obstet Invest\n                      . doi:10.1159\/000370196.","DOI":"10.1159\/000370196"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1093526616686903","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1093526616686903","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1093526616686903","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:03:27Z","timestamp":1777694607000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1093526616686903"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,25]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["10.1177\/1093526616686903"],"URL":"https:\/\/doi.org\/10.1177\/1093526616686903","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,25]]}}}