Associated Papers
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM2_ESM.xlsx › Prenatal_diagnostic_variants
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
Generalized connective tissue disease in Crtap-/- mouse.
Baldridge D et al.
Plos One, 2010
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