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  • Title: [Progress in genetic research on pachydermoperiostosis].
    Author: Du R, Fan L, Huang H, Xiang R.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):105-7. PubMed ID: 26829746.
    Abstract:
    Pachydermoperiostosis is a rare genetic disease characterized by finger clubbing, periostosis, cutis verticis gyrata and pachydermia accompanied by acroosteolysis and hyperhidrosis. Recently, two susceptibility genes, HPGD and SLCO2A1, have been identified, whose protein products are involved in the transportation of prostaglandin and metabolism underlying pachydermoperiostosis. Here the genetic basis of pachydermoperiostosis and its correlation with its clinical phenotype are reviewed, which may provide a reference for basic research and clinic diagnosis for the disease.
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