{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T16:33:59Z","timestamp":1791131639976,"version":"4.1.0"},"reference-count":13,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,8]]},"abstract":"<jats:p>The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain which does not associate with pro alpha 1(I) chains and therefore is not incorporated into triple helical trimers of type I procollagen which can be used to assemble collagen fibres.<\/jats:p>","DOI":"10.1136\/jmg.21.4.257","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"257-262","source":"Crossref","is-referenced-by-count":105,"title":["The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta."],"prefix":"10.1136","volume":"21","author":[{"given":"A C","family":"Nicholls","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Osse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H G","family":"Schloon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H G","family":"Lenard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Deak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J C","family":"Myers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D J","family":"Prockop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W R","family":"Weigel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Fryer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F M","family":"Pope","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1984,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"6627","DOI":"10.1073\/pnas.79.21.6627","article-title":"Human type I procollagen genes are located on different chromosomes","volume":"79","author":"C, I.Huerre; C, Junien; D, Well","year":"1982","unstructured":"I Huerre C, Junien C, Well D. et al. Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci USA 1982;79:6627-30.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_2","first-page":"381","article-title":"Assignment of the human proa2(l) collagen structural gene","volume":"34","author":"Junien, C.; Weil, D.; Myers, J.C.","year":"1982","unstructured":"Junien C, Weil D, Myers JC, et al. Assignment of the human proa2(l) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization. Ant J Hum Genet 1982;34:381-7.","journal-title":"Ant J Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1038\/272548a0","article-title":"Assignment of a type I collagen structural gene to chromosome 7","volume":"272","author":"Sykes, B.; Solomon, E.","year":"1978","unstructured":"Sykes B, Solomon E. Assignment of a type I collagen structural gene to chromosome 7. Nature 1978; 272:548-9.","journal-title":"Nature"},{"key":"ref_4","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_5","first-page":"501","article-title":"Osteogenesis imperfecta congenita. Evidence for a generalized molecular disorder of collagen","volume":"36","author":"D, Trelstad R.L.Rubin; J, Gross","year":"1979","unstructured":"Trelstad RL. Rubin D, Gross J. Osteogenesis imperfecta congenita. Evidence for a generalized molecular disorder of collagen. Lab Invest 1979;36:501-8.","journal-title":"Lab Invest"},{"key":"ref_6","first-page":"213","article-title":"Molecular mechanisms of abnormal bone matrix formation in osteogenesis imperfecta","volume-title":"The chemistry and biology of tmineralizedl connective tissues","author":"Byers, P.H.; Barsh, G.S.; Peterson, K.E.","year":"1981","unstructured":"Byers PH, Barsh GS, Peterson KE, et al. Molecular mechanisms of abnormal bone matrix formation in osteogenesis imperfecta. In: Veis A, ed. The chemistry and biology of tmineralizedl connective tissues. New York: Elsevier\/North Holland, 1981:213-22."},{"key":"ref_7","first-page":"3838","article-title":"Type I osteogenesis imperfecta, a nonfunctional allele for proaxl(I) chains of","volume-title":"type 1 procollagen. Proc Natl Aca( Sci USA","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 nonfunctional allele for proaxl(I) chains of type 1 procollagen. Proc Natl Aca( Sci USA 1982:79: 3838-42."},{"key":"ref_8","first-page":"5142","article-title":"Abnormal secretioni of type I procollagen in a variety","volume-title":"of osteogeniesis imperfecta. Proc Natl Acad Sci","volume":"78","author":"Nicholls, A.C.","year":"1981","unstructured":"A C Nicholls et al Barsh GS, Byers PH. Abnormal secretioni of type I procollagen in a variety of osteogeniesis imperfecta. Proc Natl Acad Sci USA 1981;78:5142-6."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/304078a0","article-title":"Ct a!. lnternial deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta","volume":"304","author":"Chu, M.L.; Williams, C.J.; Gugliemina, P.","year":"1983","unstructured":"Chu ML, Williams CJ, Gugliemina P, Ct a!. lnternial deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. 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Lancet 1979;i:1 193.","journal-title":"Lancet"},{"issue":"3","key":"ref_12","first-page":"852","article-title":"Clinical, genetic and biochemical heterogeneity of osteogenesis imperfecta","volume-title":"fibroblasts. Fedl Proc 1982; 42; The chenmistry anid biology of miiineralisecd contiective tissu(es","volume":"1","author":"Pope, F.M.; Nicholls, A.C.","year":"1981","unstructured":"Pope FM, Nicholls AC. Clinical, genetic and biochemical heterogeneity of osteogenesis imperfecta. In: Veis A, ed. The chenmistry anid biology of miiineralisecd contiective tissu(es. New York: Elsevier\/North Holland, 1981:223-7. 1:3 Deak S, Chu ML, Nicholls AC, et al. A form of osteogenesis imperfecta in which the mRNA for pro x2(1) is inefficiently tranislated in fibroblasts. Fedl Proc 1982;42: 852."},{"key":"ref_13","first-page":"5192","article-title":"The molecular defect in a non-lethal variant of osteogenesis imperfecta: synthesis of pro a2(1) chains which are not incorporated inito trimers of type I procollageins","volume":"258","author":"Deak, S.; Nicholls, A.C.; Pope, F.M.; et c","year":"1983","unstructured":"Deak S, Nicholls AC, Pope FM, et c!. The molecular defect in a non-lethal variant of osteogenesis imperfecta: synthesis of pro a2(1) chains which are not incorporated inito trimers of type I procollageins. 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