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 Pair of Siblings With Wolfram Syndrome: A Review of the Literature and Treatment Options

1 Jan 2023

Abstract excerpt

Wolfram syndrome (WS) is a rare genetic disorder typically characterized by juvenile onset diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, and neurodegeneration. There would be a high index of clinical suspicion for WS when clinical manifestations of type 1 diabetes and optic atrophy present together. Genetic analysis is often required to confirm the diagnosis. We describe a pair of Chinese...

Read the complete abstract on PubMed

Topics

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

Share to Endoplasmic Reticulum Stress and Disease
Share to Pancreatic function and diabetes
Share to RNA regulation and disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36644884
DOI: 10.1177/23247096221150631

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Pair of Siblings With Wolfram Syndrome: A Review of the Literature and Treatment OptionsPMID 36644884Read ↗

Wolfram syndrome type 1: a case series.Semantic proximity Read ↗

Wolfram Syndrome: Case series and review of the literatureSemantic proximity Read ↗

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

Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings.Semantic proximity Read ↗

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

Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.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 ↗

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

Different clinical entities of the same mutation: a case report of three sisters with Wolfram syndrome and efficacy of dipeptidyl peptidase-4 inhibitor therapy.Semantic proximity Read ↗

Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential TherapiesSemantic proximity Read ↗

Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.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 ↗

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