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Article

Type IV Bartter syndrome: report of two new cases.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2006

Zaffanello Marco, Taranta Anna, Palma Alessia, Bettinelli Alberto, Marseglia Gian Luigi, Emma Francesco

Abstract excerpt

Bartter syndrome with sensorineural deafness (type IV Bartter syndrome) is a subtype of this tubular disease, and is due to mutations in the BSND gene. Out of a population of 92 patients with Bartter syndrome, five suffered from mild to severe hypoacusia and were selected for mutational screening. A homozygous mutation in the BSND gene was found in two female patients. The first patient was found to have a...

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Source

Identifiers

PMID: 16583241
DOI: 10.1007/s00467-006-0090-x

Genes

BSND

Provenance

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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