Abstract
The detailed clinical features and progress of a child with homozygous α2(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 α2(I) chain which does not associate with pro α1(I) chains and therefore is not incorporated into triple helical trimers of type I procollagen which can be used to assemble collagen fibres.
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CITATION STYLE
Nicholls, A. C., Osse, G., Schloon, H. G., Lenard, H. G., Deak, S., Myers, J. C., … Pope, F. M. (1984). The clinical features of homozygous α2(I) collagen deficient osteogenesis imperfecta. Journal of Medical Genetics, 21(4), 257–262. https://doi.org/10.1136/jmg.21.4.257
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