Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia.

@article{Yue2009IdentificationON,
  title={Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia.},
  author={Hua Yue and Zhen-lin Zhang and Jin-wei He},
  journal={Bone},
  year={2009},
  volume={44 4},
  pages={
          547-54
        }
}
INTRODUCTION Progressive pseudorheumatoid dysplasia (PPD) is an autosomal recessive genetic disease and it has been reported that PPD is caused by mutations of the Wnt1-inducible signaling pathway protein 3 (WISP3) gene which is located on chromosome 6q22. Up to date, 16 different mutations in the WISP3 have been identified in patients with PPD in different countries previously, but only two mutations in exon 5 were previously identified from Asian origin. Our study aimed to characterize the… CONTINUE READING
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