[Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia].

@article{Ye2010ClinicalDA,
  title={[Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia].},
  author={Jun Ye and Hui-wen Zhang and Tong Wang and Lan-fang Cao and Wen-juan Qiu and Lian-shu Han and Ya-fen Zhang and Xue-fan Gu},
  journal={Zhonghua er ke za zhi = Chinese journal of pediatrics},
  year={2010},
  volume={48 3},
  pages={194-8}
}
OBJECTIVE Progressive pseudorheumatoid dysplasia (PPD) (MIM#208230) is a rare autosomal recessive disease of cartilage homeostasis characterized by axial and peripheral skeletal dysplasia. Analysis of WISP3 (Wnt1-inducible signaling pathway protein 3, MIM#603400) gene mutation can confirm the clinical and radiographic diagnosis for PPD. This study aimed to recognize PPD based on clinical manifestations and imaging characteristics of bones, and to investigate the mutations of WISP3 gene in three… CONTINUE READING
8 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-8 of 8 extracted citations

Similar Papers

Loading similar papers…