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Article

Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.

Clinical journal of the American Society of Nephrology : CJASN - 1 Feb 2011

Faguer Stanislas, Chauveau Dominique, Cintas Pascal, Tack Ivan, Cointault Olivier, Rostaing Lionel, Vargas-Poussou Rosa, Ribes David

Abstract excerpt

BACKGROUND AND OBJECTIVES: The objective of this study was to describe the renal and extrarenal findings in patients with recessively inherited familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) associated with CLDN19 mutations. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS:...

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Source

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Identifiers

PMID: 21030577
DOI: 10.2215/CJN.02870310
PMCID: PMC3052226

Genes

CLDN19
CLDN16

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21030577-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.PMID 21030577Read ↗

Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations.Semantic proximity Read ↗

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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.Semantic proximity Read ↗

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): report of three cases with a novel mutation in CLDN19 gene.Semantic proximity Read ↗

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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 ↗

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