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Osteogenesis Imperfecta (OI), sometimes known as Brittle Bone Disease, is a group of skeletal disorders that result in the growth of weakened, fragile teeth and bones.
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Specifiche
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specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
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Chromosome | |
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Informazioni generali
Osteogenesis Imperfecta (OI), sometimes known as Brittle Bone Disease, is a group of skeletal disorders that result in the growth of weakened, fragile teeth and bones. This variant of the disease is found in the Beagle, and is caused by a dominant mutation to the gene COL1A2. Closely related variants have also been found in the Chow Chow and Lagotto Romagnolo.
Caratteristiche cliniche
The main symptom for affected dogs is bone fragility, generally presenting as a history of broken bones. Primary teeth are usually tremendously thin-walled and brittle. Reduced density of bones and teeth can be seen with radiography.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 11393792
Omia ID: 2112