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Article

Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Apr 2009

Bircan Zelal, Harputluoglu Filiz, Jeck Nikola

Abstract excerpt

BSND gene mutations usually cause severe forms of antenatal Bartter syndrome and sensorineural deafness (SND). Chronic renal failure and transient hypercalciuria are reported as controversial symptoms of this syndrome. All twelve reported BSND mutations cause SND, whereas only two of the mutations give rise to normal glomerular filtration rate (GFR) and two other mutations cause hypercalciuria. The case we report...

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Source

Identifiers

PMID: 18843510
DOI: 10.1007/s00467-008-1008-6

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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