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

A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Nov 2006

Godefroid Nathalie, Riveira-Munoz Eva, Saint-Martin Christine, Nassogne Marie-Cécile, Dahan Karin, Devuyst Olivier

Abstract excerpt

We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri). The pati...

Read the complete abstract on PubMed

Topics

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

Share to Bartter Syndrome
Share to Diuretics
Share to Gitelman Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypokalemia

Share to Protein Splicing

Share to Receptors, Drug

Share to Solute Carrier Family 12, Member 3

Share to Symporters

Source

Identifiers

PMID: 17059986
DOI: 10.1053/j.ajkd.2006.08.005

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17059986-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.PMID 17059986Read ↗

A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene.Semantic proximity Read ↗

Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.Semantic proximity Read ↗

A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.Semantic proximity Read ↗

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.Semantic proximity Read ↗

Novel SLC12A3 mutation in Gitelman syndrome.Semantic proximity Read ↗

A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome.Semantic proximity Read ↗

A NOVEL COMPOUND HETEROZYGOUS VARIANT OF SLC12A3 GENE IN A PEDIGREE WITH GITELMAN SYNDROME CO-EXISTENT WITH THYROID DYSFUNCTION.Semantic proximity Read ↗

Novel heterozygous mutation of SLC12A3 gene in Gitelman syndrome.Semantic proximity Read ↗

A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.Semantic proximity Read ↗

Gitelman's syndrome: a pathophysiological and clinical update.Semantic proximity Read ↗

Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report.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 ↗

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