osteogenesis imperfecta type 9
osteogenesis imperfecta type 9
A connective tissue disorder (OMIM:259440) characterised by bone fragility, low bone mass and bowing of limbs due to multiple fractures; short limb dwarfism and blue sclerae are often, but not invariably present.Molecular pathology
PPIB defects on chromosome 15q21-q22 cause osteogenesis imperfecta type 9.