Defective O-glycosylation of novel FGF23 mutations in a Chinese family with hyperphosphatemic familial tumoral calcinosis.
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DOI: 10.1016/j.bone.2020.115401
Abstract: OBJECTIVES Hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome (HFTC/HHS) is a rare disorder caused by deficiency or resistance of fibroblast growth factor 23 (FGF23). Here we reported a Chinese family with HFTC/HHS, aiming at clarifying the clinical… read more here.
Keywords: fgf23; hyperphosphatemic familial; family; glycosylation ... See more keywords