Associated Papers
A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX.
Zhu W et al.
Frontiers in Genetics, 2021
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Pyott SM et al.
Human Molecular Genetics, 2011
Classification of Osteogenesis Imperfecta revisited.
Van Dijk FS et al.
European Journal of Medical Genetics, 0
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