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Article

A case of antenatal Bartter syndrome with sensorineural deafness.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Oct 2010

Lee Hyun Seung, Cheong Hae Il, Ki Chang-Seok

Abstract excerpt

Bartter syndrome type IV, also known as Bartter syndrome with sensorineural deafness (BSND), is caused by loss-of-function mutations in the BSND gene, which encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Patients with BS IV have a highly variable clinical phenotype. This report concerns a Korean male patient with antenatal Bartter syndrome due to a homozygous BSND...

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Source

Identifiers

PMID: 21158220
DOI: 10.1515/jpem.2010.170

Genes

BSND

Variants

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.

Related research

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A case of antenatal Bartter syndrome with sensorineural deafness.PMID 21158220Read ↗

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