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H431

Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth.

10 Arbeidsdager

Spesifikasjoner

Breeds

Gene

Organ

specimen

Svaber, EDTA blod, heparinblod, sæd, vev

Mode of Inheritance

Chromosome

Also known as

Year Published

Generell informasjon

Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a hereditary disease and is characterised by extremely fragile bones and teeth. Defects in the structure of the collagen leads to Osteogenesis Imperfecta.

This variant of OI, found in the Dachshund, is caused by a recessive mutation to the gene SERPINH1.

Kliniske egenskaper

This disease is characterised by extremely fragile bones and teeth. It is sometimes also accompanied by other complications like blue sclera, hearing loss, dwarfism and discoloured teeth.

Tilleggsinformasjon

Referanser

Pubmed ID: 19629171

Omia ID: 1483

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