Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome

  title={Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome},
  author={Brian P. Kelley and Fransiska Malfait and Luisa Bonafė and Dustin M Baldridge and Erica P. Homan and Sofie Symoens and Andy Willaert and Nursel E Elçioglu and Lionel Van Maldergem and Christine Verellen-Dumoulin and Yves Gillerot and Dobrawa Napierala and Deborah Krakow and Peter Beighton and Andrea Superti-Furga and Anne De Paepe and Brendan Lee},
  booktitle={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational modification of type I collagen. Autosomal dominant OI is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Bruck syndrome is a recessive disorder featuring congenital contractures in addition to bone fragility; Bruck syndrome type 2 is caused by mutations in PLOD2 encoding collagen lysyl hydroxylase… CONTINUE READING
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Mutations in the gene encoding the RER chaperone FKBP65 produce autosomal recessive osteogenesis imperfecta

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  • Am J Hum Genet
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Osteogenesis Imperfecta

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