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Article

Unusual clinical presentation and possible rescue of a novel claudin-16 mutation.

The Journal of clinical endocrinology and metabolism - 1 Aug 2006

Müller Dominik, Kausalya P Jaya, Bockenhauer Detlef, Thumfart Julia, Meij Iwan C, Dillon Michael J, van't Hoff William, Hunziker Walter

Abstract excerpt

CONTEXT: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is caused by a dysfunction of Claudin-16 (CLDN16) and characterized by renal wasting of Mg(2+) and Ca(2+). OBJECTIVE: The objectives of this study were to study the clinical parameters in suspected FHHNC patients, identify mutations in the CLDN16 gene, and analyze molecular defects associated with the mutant protein. DESIGN,...

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Source

Identifiers

PMID: 16705067
DOI: 10.1210/jc.2006-0200

Genes

CLDN16

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Unusual clinical presentation and possible rescue of a novel claudin-16 mutation.PMID 16705067Read ↗

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Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.Semantic proximity Read ↗

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