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Article

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations.

Pediatric nephrology (Berlin, Germany) - 1 Oct 2005

Kang Ju Hyung, Choi Hyun Jin, Cho Hee Yeon, Lee Joo Hoon, Ha Il Soo, Cheong Hae Il, Choi Yong

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 and an eventual progression to end-stage renal disease. Recent studies have reported that this disease is caused by mutations in the CLDN16 gene, which encodes the...

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Source

Identifiers

PMID: 16047219
DOI: 10.1007/s00467-005-1969-7

Genes

CLDN16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations.PMID 16047219Read ↗

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A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family.Semantic proximity Read ↗

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.Semantic proximity Read ↗

Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.Semantic proximity Read ↗

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings.Semantic proximity Read ↗

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.Semantic proximity Read ↗

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