Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.

Pediatric research - 1 Dec 2005

Bettinelli Alberto, Borsa Nicolò, Syrén Marie-Louise, Mattiello Camilla, Coviello Domenico, Edefonti Alberto, Giani Marisa, Travi Maurizio, Tedeschi Silvana

Abstract excerpt

Two siblings (brother and sister) with renal tubular hypokalemic alkalosis underwent clinical, biochemical and molecular investigations. Although the biochemical findings were similar (including hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism and normal blood pressure), the clinical findings were different: the boy, who also presented syndromic signs, developed glomerular proteinuria and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anion Transport Proteins
Share to Bartter Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chloride Channels

Share to Kidney

Share to Receptors, Drug

Share to Siblings

Share to Solute Carrier Family 12, Member 3

Share to Symporters

Source

Identifiers

PMID: 16306206
DOI: 10.1203/01.pdr.0000185267.95466.41

Genes

CLCNKB

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.PMID 16306206Read ↗

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.Semantic proximity Read ↗

A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.Semantic proximity Read ↗

Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.Semantic proximity Read ↗

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.Semantic proximity Read ↗

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.Semantic proximity Read ↗

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis.Semantic proximity Read ↗

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.Semantic proximity Read ↗

A novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate.Semantic proximity Read ↗

Identification of novel compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman's syndrome exhibiting Bartter's syndrome-liked phenotypesSemantic proximity Read ↗

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.Semantic proximity Read ↗

Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.Semantic proximity Read ↗

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.