Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.

@article{Nakatsuka2003PhenotypicCO,
  title={Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.},
  author={Kiyoshi Nakatsuka and Yoshiki Nishizawa and Stuart H. Ralston},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2003},
  volume={18 8},
  pages={1381-5}
}
Three different insertion mutations in the TNFRSF11A gene affecting the signal peptide of RANK have been described. An 18-bp duplication at position 84 (84dup18) is associated with the clinical syndrome of familial expansile osteolysis (FEO), whereas a 15-bp duplication at the same site (84dup15) causes the syndrome of expansile skeletal hyperphosphatasia (ESH). Here we report the phenotype of patients harboring a 27-bp duplication at position 75 (75dup27) in RANK. Affected individuals had… CONTINUE READING

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