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Article

Renal manifestations of Dent disease and Lowe syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2008

Cho Hee Yeon, Lee Bum Hee, Choi Hyun Jin, Ha Il Soo, Choi Yong, Cheong Hae Il

Abstract excerpt

To date, two responsible genes for the development of Dent disease have been identified: CLCN5 and OCRL1. In this study, genotype-phenotype correlations were studied in patients with Dent disease and those with Lowe syndrome. Among the 12 boys with a phenotype typical of Dent disease, nine had a...

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Source

Identifiers

PMID: 18038239
DOI: 10.1007/s00467-007-0686-9

Genes

CLCN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18038239-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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