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Article

A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene.

Pediatric nephrology (Berlin, Germany) - 1 May 1999

Bosio M, Bianchi M L, Lloyd S E, Thakker R V

Abstract excerpt

We describe a familial syndrome in two brothers who were investigated after the casual discovery of tubular proteinuria in their 1st month of life. During a follow-up of 20 and 11 years, respectively, the two children grew well and were asymptomatic, but developed the same biochemical abnormalities, i.e., tubular proteinuria and hyperphosphaturia, progressive decrease in serum phosphorus below the normal values...

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Source

Identifiers

PMID: 10454773
DOI: 10.1007/s004670050608

Genes

CLCN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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