Alterations in SAMD9, AHSG, FRG2C, and FGFR4 Genes in a Case of Late-Onset Massive Tumoral Calcinosis

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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Main Authors: Melvin Khee Shing Leow, MD, PhD, MMed (Int Med), Joshur Ang, MRes, Xinyan Bi, PhD, Ee Tzun Koh, MD, MMed (Int Med), MRCP (UK), Craig McFarlane, PhD
Format: Article
Language:English
Published: Elsevier 2023-09-01
Series:AACE Clinical Case Reports
Subjects:
massive tumoral calcinosis
ectopic calcification
phosphatonin resistance
whole genome sequencing
heterozygous calcinosis gene alterations
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060523001104

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http://www.sciencedirect.com/science/article/pii/S2376060523001104

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