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H964

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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Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

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 Chow Chow, and is caused by a dominant mutation to the gene COL1A2. Closely related variants have also been found in the Beagle and Lagotto Romagnolo.

Caractéristiques cliniques

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.

Additional Information

Références

Pubmed ID: 29036614

Omia ID: 2112

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