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Article

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2008

Peru Harun, Akin Fatih, Elmas Sefika, Elmaci Ahmet Midhat, Konrad Martin

Abstract excerpt

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the loop of Henle. This disease is caused by mutations in the claudin-16 gene (CLDN16), which encodes the tight junction protein, claudin-16. Claudin-16 belongs to the claudin family and...

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Source

Identifiers

PMID: 18253757
DOI: 10.1007/s00467-008-0758-5

Genes

CLDN16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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