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Article

Defective O-glycosylation of novel FGF23 mutations in a Chinese family with hyperphosphatemic familial tumoral calcinosis.

Bone - 1 Aug 2020

Liu Chang, Pang Qianqian, Jiang Yan, Xia Yu, Fang Ligang, Wang Ou, Li Mei, Xing Xiaoping, Gong Yiyi, Xia Weibo

Abstract excerpt

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 features, bone microarchitectures and molecular mechanisms of the disease. METHODS: Clinical manifestations, laboratory...

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PMID: 32360901
DOI: 10.1016/j.bone.2020.115401

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