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D. Del Prete

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Case report Open access Oct 2026

Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis: A Case Report of Compound Heterozygous Variants in the CLDN16 Gene Inherited From Symptomatic Heterozygous Carriers

Abstract Introduction Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder characterized by renal magnesium wasting, hypercalciuria, and early onset of nephrocalcinosis, complicated by progressive chronic renal failure in childhood or adolescence. The disorder...

M. Ceol, Elena Sgrò, F. Anglani et al. · 0 citations

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