Ontology highlight
ABSTRACT:
SUBMITTER: Jacinto JGP
PROVIDER: S-EPMC7924654 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Jacinto Joana G P JGP Häfliger Irene M IM McEvoy Fintan J FJ Drögemüller Cord C Agerholm Jørgen S JS
Animals : an open access journal from MDPI 20210220 2
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 of an OI type II-affected neonatal Holstein calf and to identify the causative genet ...[more]