Juvenile Paget disease.

@article{Polyzos2018JuvenilePD,
  title={Juvenile Paget disease.},
  author={Stergios A Polyzos and T. F. Cundy and Christos Socrates Mantzoros},
  journal={Metabolism: clinical and experimental},
  year={2018},
  volume={80},
  pages={15-26}
}
Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene TNFRSF11B that encodes osteoprotegerin (OPG). Loss of OPG action causes generalized, extremely rapid bone turnover. The clinical manifestations are both skeletal - progressive skeletal deformity that develops in childhood - and extra-skeletal, including hearing loss, retinopathy, vascular calcification and internal carotid artery aneurysm formation. The severity of the phenotype seems to be related to the… CONTINUE READING
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