Alterations in SAMD9, AHSG, FRG2C, and FGFR4 genes in a case of late-onset massive tumoral calcinosis

Background/Objective: Tumoral calcinosis (TC) is a rare, arcane, and debilitating disorder of phosphate metabolism manifesting as hard masses in soft tissues. Primary hyperphosphatemic TC has been shown to be caused by pathogenic variants in the genes encoding FGF23, GALNT3, and KLOTHO. We report a...

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Bibliographic Details
Main Authors: Leow, Melvin Khee Shing, Ang, Joshur, Bi, Xinyan, Koh, Ee Tzun, McFarlane, Craig
Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
Format: Journal Article
Language:English
Published: 2023
Subjects:
Online Access:https://hdl.handle.net/10356/171876