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Article

Phenotype and genotype of Dent's disease in three Chinese boys.

Nephrology (Carlton, Vic.) - 1 Apr 2009

Li Peng, Huang Jian-Ping

Abstract excerpt

AIM: Dent's disease represents a group of hereditary renal tubular disorders mainly characterized by hypercalciuria, nephrocalcinosis and low molecular weight proteinuria. The majority of patients with Dent's disease were found to carry CLCN5 gene mutations, whereas a small fraction of patients carry OCRL1 gene mutations. Up to date, over 100 patients with Dent's disease have been reported to carry CLCN5 gene...

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Source

Identifiers

PMID: 19076289
DOI: 10.1111/j.1440-1797.2008.01057.x

Genes

CLCN5

Variants

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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