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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.

10 Arbeidsdager

Spesifikasjoner

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Generell informasjon

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 has been observed in a Japanese domestic cat, and is likely caused by a recessive mutation to the gene CREB3L1.

Kliniske egenskaper

Affected kittens present with stunted growth, curved limbs, abnormal gait, and possibly constipation due to pelvic stenosis. The resulting complications can be life-threatening.

Tilleggsinformasjon

Referanser

Pubmed ID: 35168412

Omia ID: 2533

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