Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

@article{Rohrbach2012RecessiveOI,
  title={Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings},
  author={Marianne Rohrbach and Cecilia Giunta},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
  year={2012},
  volume={160C}
}
  • M. Rohrbach, C. Giunta
  • Published 15 August 2012
  • Medicine
  • American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Osteogenesis imperfecta (OI) or “brittle bone disease” is currently best described as a group of hereditary connective tissue disorders related to primary defects in type I procollagen, and to alterations in type I procollagen biosynthesis, both associated with osteoporosis and increased susceptibility to bone fractures. Initially, the autosomal dominant forms of OI, caused by mutations in either COL1A1 or COL1A2, were described. However, for decades, the molecular defect of a small percentage… Expand
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  • Biology, Medicine
  • Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
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TLDR
It is concluded that FKBP10 mutations are a cause of recessive osteogenesis imperfecta and Bruk syndrome, possibly Bruck syndrome Type 1 since the location on chromosome 17 has not been definitely localized. Expand
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