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

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

Molecular vision - 25 Jul 2008

Zenteno Juan Carlos, Ruiz Gabriela, Pérez-Cano Hector J, Camargo Mayra

Abstract excerpt

PURPOSE: To describe the first instance of genotyping in a Latin American family with Wolfram syndrome (WS). METHODS: Four affected siblings and their healthy parents were studied. Ophthalmologic examination included best corrected visual acuity determination, funduscopy, fluorescein retinal angiography, and Goldmann kinetic perimetry. Molecular methods included linkage analysis using microsatellites markers...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 4
Share to Frameshift Mutation
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Markers

Share to Heterozygote

Share to Membrane Proteins

Share to Point Mutation

Share to Wolfram Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 18660851
PMCID: PMC2483297

Genes

WFS1

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.PMID 18660851Read ↗

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.Semantic proximity Read ↗

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.Semantic proximity Read ↗

A Novel Compound Heterozygous Mutation in the WFS1 Gene (C.1997 G>A and C.2113_2114 ins T) Causes wolfram Syndrome: A Case ReportSemantic proximity Read ↗

Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.Semantic proximity Read ↗

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.Semantic proximity Read ↗

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.Semantic proximity Read ↗

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.Semantic proximity Read ↗

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.Semantic proximity Read ↗

Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.Semantic proximity Read ↗

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.Semantic proximity Read ↗

Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.Semantic proximity Read ↗

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.Semantic proximity Read ↗

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