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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
| Razza | |
|---|---|
| Gene | |
| Organo | |
| Campione | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Tipo di Ereditarietà | Autosomal Recessive |
| Cromosoma | D1 |
| Tipo di Ereditarietà | OI |
| Anno di pubblicazione |
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 has been observed in a Japanese domestic cat, and is likely caused by a recessive mutation to the gene CREB3L1.
Caratteristiche cliniche
Affected kittens present with stunted growth, curved limbs, abnormal gait, and possibly constipation due to pelvic stenosis. The resulting complications can be life-threatening.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 35168412
Omia ID: 2533