Article
Clinical and biochemical response of TNFRSF11A-mediated early-onset familial Paget disease to bisphosphonate therapy.
Calcified tissue international - 1 Oct 2008
Riches Philip L, Imanishi Yasuo, Nakatsuka Kiyoshi, Ralston Stuart H
Abstract excerpt
Early-onset familial Paget disease of bone (EoPDB) is a rare condition caused by a 27-bp insertion mutation affecting the signal peptide of TNFRSF11A, which encodes RANK. EoPDB shows phenotypic overlap to both familial expansile osteolysis and expansile skeletal hyperphosphatasia, which are cause...
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