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

• 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: Article
• Language: English
• Published: 2023
• Subjects: Science::Medicine; Massive Tumoral Calcinosis; Ectopic Calcification
• Online Access: https://hdl.handle.net/10356/171876
• Institution: Nanyang Technological University

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...