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

Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant.

Clinical genetics - 1 Aug 2016

Salvatore D, Dell'Edera D, Colangelo C, Smaldore G

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to CFTR gene
Share to Infant

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Sodium Chloride

Share to Syndrome

Source

Identifiers

PMID: 26856987
DOI: 10.1111/cge.12733

Genes

CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant.PMID 26856987Read ↗

Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation.Semantic proximity Read ↗

Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed!Semantic proximity Read ↗

Review article: the clinical management of congenital chloride diarrhoea.Semantic proximity Read ↗

Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report.Semantic proximity Read ↗

Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis.Semantic proximity Read ↗

A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism due to a Novel Homozygous Variant in the SCNN1B GeneSemantic proximity Read ↗

[Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].Semantic proximity Read ↗

The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants.Semantic proximity Read ↗

SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea.Semantic proximity Read ↗

Fetal phenotype of SLC35A2-CDG: Enlarged cisterna magna on ultrasound.Semantic proximity Read ↗

Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)Semantic proximity Read ↗

Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrheaSemantic proximity Read ↗

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