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A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II

20 Feb 2021

Abstract excerpt

Osteogenesis imperfecta (OI) type II is a genetic connective tissue disorder characterized by bone fragility, severe skeletal deformities and shortened limbs. OI usually causes perinatal death of affected individuals. OI type II diagnosis in humans is established by the identification of heterozygous mutations in genes coding for collagens. The purpose of this study was to characterize the pathological phenotype...

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PMID: 33672767
DOI: 10.3390/ani11020561

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