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

@inproceedings{Zhang2013PhenotypeAG,
  title={Phenotype and Genotype Analysis of Chinese Patients with Osteogenesis Imperfecta Type V},
  author={Zeng Y Zhang and Mengting Li and Jin-wei He and Wen-zhen Fu and Chang-Qing Zhang and Zhen-lin Zhang},
  booktitle={PloS one},
  year={2013}
}
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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Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation

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