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

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 mutation...

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Detalles Bibliográficos
Autores principales: Zuo, Qingyao, Yang, Weili, Liu, Baoyue, Yan, Dong, Wang, Zhixin, Wang, Hong, Deng, Wei, Cao, Xi, Yang, Jinkui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9540505/
https://www.ncbi.nlm.nih.gov/pubmed/36213261
http://dx.doi.org/10.3389/fendo.2022.1008800

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9540505/
https://www.ncbi.nlm.nih.gov/pubmed/36213261
http://dx.doi.org/10.3389/fendo.2022.1008800

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