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Article

Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.

Human genetics - 1 Mar 2021

Gianesello Lisa, Del Prete Dorella, Anglani Franca, Calò Lorenzo A

Abstract excerpt

Dent disease is a rare genetic proximal tubulopathy which is under-recognized. Its phenotypic heterogeneity has led to several different classifications of the same disorder, but it is now widely accepted that the triad of symptoms low-molecular-weight proteinuria, hypercalciuria and nephrocalcinosis/nephrolithiasis are pathognomonic of Dent disease. Although mutations on the CLCN5 and OCRL genes are known to...

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Identifiers

PMID: 32860533
DOI: 10.1007/s00439-020-02219-2
PMCID: PMC7889681

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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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