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

Pediatric nephrology (Berlin, Germany) - 1 Apr 2005

Cheong Hae Il, Lee Jung Won, Zheng Shou Huan, Lee Joo Hoon, Kang Ju Hyung, Kang Hee Gyung, Ha Il Soo, Lee Seung Joo, Choi Yong

Abstract excerpt

Dent's disease is a hereditary renal tubular disorder caused by mutations of the CLCN5 gene and is clinically characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. This disease has been reported in several countries. However, there are some phenotypic differences...

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Source

Identifiers

PMID: 15719255
DOI: 10.1007/s00467-004-1769-5

Genes

CLCN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15719255-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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