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Osteogenesis Imperfecta, 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
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Year Published |
Informazioni generali
Osteogenesis Imperfecta, sometimes known as Brittle Bone Disease, is a group of skeletal disorders that result in the growth of weakened, fragile teeth and bones. This severe variant of the disorder, Osteogenesis Imperfecta Type III, is caused by a dominant mutation to the COL1A1 gene, and has been observed in the Golden Retriever.
Caratteristiche cliniche
Within the first months of life, affected puppies show reduced growth, weak and discoloured teeth (dentinogenesis imperfecta) and easily suffer bone fractures.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 11147834
Omia ID: 2126