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Article

A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation.

Frontiers in endocrinology - 1 Jan 2022

Zuo Qingyao, Yang Weili, Liu Baoyue, Yan Dong, Wang Zhixin, Wang Hong, Deng Wei, Cao Xi, Yang Jinkui

Abstract excerpt

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 gene mutations associated with HFTC and elucidated its pathogenic role. Methods: The three subjects (two male and one female)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36213261
DOI: 10.3389/fendo.2022.1008800
PMCID: PMC9540505

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