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

Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families.

Molecular biology reports - 1 Nov 2014

Sobhani Maryam, Tabatabaiefar Mohammad Amin, Rajab Asadollah, Kajbafzadeh Abdol-Mohammad, Noori-Daloii Mohammad Reza

Abstract excerpt

Wolfram syndrome also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness) is a rare neurodegenerative autosomal recessive disorder. There is evidence of variable expressivity both in patients and heterozygous carriers. In this study, we describe three Persian Wolfram syndrome families with differences in the age of onset, signs and symptoms of the disease. We clinically evaluated...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Inheritance Patterns

Share to Membrane Proteins

Share to Point Mutation

Share to Wolfram Syndrome

Source

Identifiers

PMID: 25173644
DOI: 10.1007/s11033-014-3642-3

Genes

WFS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families.PMID 25173644Read ↗

Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.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 ↗

Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.Semantic 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 in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.Semantic proximity Read ↗

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

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

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

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

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.Semantic proximity Read ↗

Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.Semantic proximity Read ↗

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.Semantic proximity Read ↗

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