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Article

Autosomal recessive renal proximal tubulopathy and hypercalciuria: a new syndrome.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Apr 2004

Magen Daniella, Adler Lior, Mandel Hana, Efrati Edna, Zelikovic Israel

Abstract excerpt

BACKGROUND: The best described primary inherited proximal tubulopathies include X-linked hypercalciuric nephrolithiasis (XLHN), caused by a mutation in the chloride channel gene CLCN5, and classic Fanconi's syndrome, the genetic basis of which is unknown. The aim of this study is to examine the c...

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Source

Identifiers

PMID: 15042536
DOI: 10.1053/j.ajkd.2003.12.024

Genes

CLCN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15042536-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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