Defective O-glycosylation of novel FGF23 mutations in a Chinese family with hyperphosphatemic familial tumoral calcinosis.
Sign Up to like & getrecommendations! Published in 2020 at "Bone"
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
A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.1008800
Abstract: Background Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare disease characterized by hyperphosphatemia and ectopic calcification, predominantly at periarticular locations. This study was performed to characterize the clinical profile of tumoral calcinosis and to identify… read more here.
Keywords: fgf23; hyperphosphatemic familial; calcinosis; glycosylation ... See more keywords