{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:22:00Z","timestamp":1791973320680,"version":"4.3.4"},"reference-count":8,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,6]]},"abstract":"<jats:p>We have studied 166 patients from 71 families with Sillence type I osteogenesis imperfecta (dominant inheritance and blue sclerae). We confirm earlier findings that there are two subgroups, those with and those without dentinogenesis imperfecta; each family can be allocated to one or other group. Our confidence that the two groups represent distinct disorders is increased by finding that the patients with dentinogenesis imperfecta differ not only in their dental characteristics but also in other clinical features. They have a more severe disease with a greater fracture rate and a greater likelihood of growth impairment.<\/jats:p>","DOI":"10.1136\/jmg.20.3.203","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"203-205","source":"Crossref","is-referenced-by-count":50,"title":["Heterogeneity of osteogenesis imperfecta type I."],"prefix":"10.1136","volume":"20","author":[{"given":"C R","family":"Paterson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"McAllion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1983,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence, D.O.; Senn, A.; Danks, D.M.","year":"1979","unstructured":"Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/ajmg.1320050213","article-title":"Scanning electron microscopy of teeth in dominant osteogenesis imperfecta","volume":"5","author":"Levin, L.S.; Brady, J.M.; Melnick, M.","year":"1980","unstructured":"Levin LS, Brady JM, Melnick M. Scanning electron microscopy of teeth in dominant osteogenesis imperfecta. Am J Med Genet 1980;5:189-99.","journal-title":"Am J Med Genet"},{"key":"ref_3","first-page":"719","article-title":"Statistical aspects of analysis of data from retrospective aspects of disease","volume":"22","author":"Mantel, N.; Haenszel, W.","year":"1959","unstructured":"Mantel N, Haenszel W. Statistical aspects of analysis of data from retrospective aspects of disease. J Natl Cancer Inst 1959;22:719-48.","journal-title":"J Natl Cancer Inst"},{"key":"ref_4","first-page":"6179","article-title":"A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose","volume-title":"the COOHterminal propeptide. Proc Natl Acad Sci","volume":"77","author":"Peltonen, L.; Palotie, A.; Prockop, D.J.","year":"1980","unstructured":"Peltonen L, Palotie A, Prockop DJ. A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOHterminal propeptide. Proc Natl Acad Sci USA 1980;77: 6179-83."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1136\/jcp.33.6.534","article-title":"Osteogenesis imperfecta (lethal) bones contain types III and V collagens","volume":"33","author":"Pope, F.M.; Nicholls, A.C.; Eggleton, C.; Narcissi, P.; Hey, E.N.; Parkin, J.M.","year":"1980","unstructured":"Pope FM, Nicholls AC, Eggleton C, Narcissi P, Hey EN, Parkin JM. Osteogenesis imperfecta (lethal) bones contain types III and V collagens. J Clin Pathol 1980; 33: 534-8.","journal-title":"J Clin Pathol"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1042\/cs0600617","article-title":"The relative amounts of collagen chains al(I), a2 and acl(III) in the skin of 31 patients with osteogenesis imperfecta","volume":"60","author":"Francis, M.J.O.; Williams, K.J.; Sykes, B.C.; Smith, R.","year":"1981","unstructured":"Francis MJO, Williams KJ, Sykes BC, Smith R. The relative amounts of collagen chains al(I), a2 and acl(III) in the skin of 31 patients with osteogenesis imperfecta. Clin Sci 1981;60:617-23.","journal-title":"Clin Sci"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/BF01477288","article-title":"Osteogenesis imperfecta: biochemical and clinical evaluation of 13 cases","volume":"59","author":"Krieg, T.; Kirsch, E.; Matzen, K.; Muller, P.K.","year":"1981","unstructured":"Krieg T, Kirsch E, Matzen K, Muller PK. Osteogenesis imperfecta: biochemical and clinical evaluation of 13 cases. Klin Wochenschr 1981;59:91-3.","journal-title":"Klin Wochenschr"},{"key":"ref_8","first-page":"3838","article-title":"Type I osteogenesis imperfecta: a non-functional allele for proal(I) chains of","volume-title":"type I procollagen. Proc Natl Acad Sci","volume":"79","author":"Barsh, G.S.; David, K.E.; Byers, P.H.","year":"1982","unstructured":"Barsh GS, David KE, Byers PH. Type I osteogenesis imperfecta: a non-functional allele for proal(I) chains of type I procollagen. Proc Natl Acad Sci USA 1982;79: 3838-42."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.20.3.203","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:22:19Z","timestamp":1760728939000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.3.203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,6]]},"references-count":8,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1983,6,1]]},"published-print":{"date-parts":[[1983,6]]}},"alternative-id":["10.1136\/jmg.20.3.203"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.3.203","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,6]]}}}