{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:30:10Z","timestamp":1772325010670,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,2,10]],"date-time":"2009-02-10T00:00:00Z","timestamp":1234224000000},"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 A"],"published-print":{"date-parts":[[2009,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by fractures with minimal trauma. Intracranial hemorrhage has been reported in a small number of OI patients. Here we describe three patients, a boy (aged 15 years) and two girls (aged 17 and 7 years) with OI type III who suffered intracranial hemorrhage and in addition had brachydactyly and nail hypoplasia. In all of these patients, OI was caused by glycine mutations affecting exon 49 of the <jats:italic>COL1A2<\/jats:italic> gene, which codes for the most carboxy\u2010terminal part of the triple\u2010helical domain of the collagen type I alpha 2 chain. These observations suggest that mutations in this region of the collagen type I alpha 2 chain carry a high risk of abnormal limb development and intracranial bleeding. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32653","type":"journal-article","created":{"date-parts":[[2009,2,10]],"date-time":"2009-02-10T18:59:37Z","timestamp":1234292377000},"page":"461-465","source":"Crossref","is-referenced-by-count":21,"title":["Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2"],"prefix":"10.1002","volume":"149A","author":[{"given":"Eissa","family":"Faqeih","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Roughley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francis H.","family":"Glorieux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,2,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.3.193"},{"key":"e_1_2_6_3_1","first-page":"180","article-title":"Acute extradural haematoma following trivial trauma in a case of osteogenesis imperfecta","volume":"28","author":"Diaz LA","year":"1985","journal-title":"Neurochirurgia (Stuttg)"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.21.10325"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2004.07.011"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513818809041570"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/301689"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20429"},{"key":"e_1_2_6_9_1","first-page":"57","article-title":"Epidural hematoma formation following trivial head trauma in a child with osteogenesis imperfecta. 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