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A Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of the GALNT3 Gene Causing Hyperphosphatemic Tumoral Calcinosis

Hyperphosphatemic familial tumoral calcinosis (HTC) is a rare disease caused by autosomal recessive loss of function variants in the genes encoding fibroblast growth factor 23 (FGF-23), Klotho, or GalNAc-T3. This results in reduced phosphate excretion in the renal proximal tubule, leading to hyperph...

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Principais autores: Julia Maria Portmann, Katharina Martini, Angela Bahr, Alexander Ritter, Carsten A. Wagner, Harald Seeger
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2026-03-01
Serier:Kidney Medicine
Fag:
chronic kidney disease
FGF-23
hyperphosphatemia
phosphate metabolism
tissue calcification
Online adgang:http://www.sciencedirect.com/science/article/pii/S2590059526000026
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