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

Congenital cataracts in two siblings with Wolfram syndrome.

Ophthalmic genetics - 1 Dec 2010

Mets Rebecca B, Emery Sarah B, Lesperance Marci M, Mets Marilyn B

Abstract excerpt

BACKGROUND: Wolfram syndrome is characterized by optic atrophy, insulin dependent diabetes mellitus, diabetes insipidus and deafness. There are several other associated conditions reported in the literature, but congenital or early childhood cataracts are not among them. MATERIALS AND METHODS: Observational case series with confirmatory genetic analysis. RESULTS: A pair of siblings, followed over 17 years, who...

Read the complete abstract on PubMed

Topics

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

Share to Cataract
Share to Diagnosis, Differential
Share to Hearing Loss, Sensorineural

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

Share to Membrane Proteins

Share to Optic Atrophy

Share to Siblings

Share to Visual Acuity

Share to Wolfram Syndrome

Source

Identifiers

PMID: 21067485
DOI: 10.3109/13816810.2010.516056

Genes

WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

Congenital cataracts in two siblings with Wolfram syndrome.PMID 21067485Read ↗

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.Semantic proximity Read ↗

Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.Semantic proximity Read ↗

Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: a case report.Semantic proximity Read ↗

Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.Semantic proximity Read ↗

Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.Semantic proximity Read ↗

A Pair of Siblings With Wolfram Syndrome: A Review of the Literature and Treatment OptionsSemantic proximity Read ↗

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A).Semantic proximity Read ↗

Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related DisordersSemantic proximity Read ↗

A Wolfram-like syndrome family: Case report.Semantic proximity Read ↗

Wolfram syndrome: new mutations, different phenotype.Semantic proximity Read ↗

A novel WFS1 variant associated with isolated congenital cataracts.Semantic proximity Read ↗

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

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