Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss
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Osteogenesis imperfecta (OI) is an inherited disorder of connective tissue typically caused by defects in either COL1A1 or COL1A2. A number of other genes causative of this disorder have been found, including PPIB, which forms one subunit of the prolyl 3-hydro... ...
