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Osteogenesis Imperfecta


Disease Name
Osteogenesis Imperfecta
Mutation 2
Test Type
Genetic Disease/Disorder
Causes bones and teeth to be extremely brittle and easy to break. Joints may also be very flexible
Details 2
Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth. Most human and some canine OI cases are caused by mutations in the COL1A1 and COL1A2 genes encoding the subunits of collagen I...(From Drogemuller et al, 2009)
Drogemuller, C., Becker, D., Brunner, A., Haase, B., Kircher, P., Seeliger, F., Fehr, M., Baumann, U., Lindblad-Toh, K., Leeb, T.: A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet 5:e1000579, 2009. Pubmed reference: 19629171. DOI: 10.1371/journal.pgen.1000579
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