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Homozygous osteogenesis imperfecta unlinked to collagen I genes |
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| Authors: | Katherine Aitchison Donald Ogilvie Mary Honeyman Elizabeth Thompson Bryan Sykes |
| Affiliation: | (1) University of Oxford, Nuffield Department of Pathology, John Radcliffe Hospital, OX3 9DU Oxford, UK;(2) Department of Paediatrics, Selly Oak Hospital, B29 6JD Birmingham, UK;(3) Institute of Child Health, Guilford Street, WC1 1EH London, UK |
| Abstract: | Summary In a consanguineous pedigree in which a severe type of osteogenesis imperfecta was segregating as an autosomal recessive trait, analysis of genetic markers for both collagen I structural loci COL1A1 and COL1A2 showed that the phenotype was unlinked to either locus. |
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