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
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.
Pyott SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
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