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