Phenotype and Genotype Analysis of Chinese Patients with Osteogenesis Imperfecta Type V

@article{Zhang2013PhenotypeAG,
  title={Phenotype and Genotype Analysis of Chinese Patients with Osteogenesis Imperfecta Type V},
  author={Z. Zhang and M. Li and J. He and Wen-zhen Fu and C. Zhang},
  journal={PLoS ONE},
  year={2013},
  volume={8}
}
  • Z. Zhang, M. Li, +3 authors Z. Zhang
  • Published 2013
  • Medicine, Biology
  • PLoS ONE
  • Osteogenesis imperfecta (OI) type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. The causative mutation, c.-14C>T in the 5'-untranslated region of IFITM5, was recently discovered to be involved in this disease. However, in spite of the little genotypic variability, considerable phenotypic variability has been recognized in two cohorts of… CONTINUE READING

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