Osteogenesis imperfecta type 14
Osteogenesis imperfecta type 14
Definition
Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.
Also known as OI14, osteogenesis imperfecta caused by mutation in TMEM38B, TMEM38B osteogenesis imperfecta — per MONDO