Human genes for osteogenesis imperfecta type 4
Osteogenesis imperfecta type 4 [DOID:0110340]
An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
Synonyms: osteogenesis imperfecta type 4, DOID:0110340, OI4, osteogenesis imperfecta type IV, osteogenesis imperfecta with normal sclera ...