New perspectives on osteogenesis imperfecta

@article{Forlino2011NewPO,
  title={New perspectives on osteogenesis imperfecta},
  author={Antonella Forlino and Wayne A Cabral and Aileen M. Barnes and Joan C. Marini},
  journal={Nature Reviews Endocrinology},
  year={2011},
  volume={7},
  pages={540-557}
}
A new paradigm has emerged for osteogenesis imperfecta as a collagen-related disorder. The more prevalent autosomal dominant forms of osteogenesis imperfecta are caused by primary defects in type I collagen, whereas autosomal recessive forms are caused by deficiency of proteins which interact with type I procollagen for post-translational modification and/or folding. Factors that contribute to the mechanism of dominant osteogenesis imperfecta include intracellular stress, disruption of… CONTINUE READING
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