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

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

Journal of medical case reports - 27 Sept 2023

Sahli Maryem, Zrhidri Abdelali, Boualaoui Imad, Cherkaoui Jaouad Imane, El Kadiri Youssef, Nouini Yassine, Sefiani Abdelaziz

Abstract excerpt

BACKGROUND: Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic manifestations. Symptoms of the disease arise mostly in early childhood with a high mortality rate due to severe neurological complications. Two causative genes have been identifed in this...

Read the complete abstract on PubMed

Topics

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

Share to Atrophy
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Diabetes Mellitus, Type 1

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Share to Optic Atrophy

Share to Wolfram Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 37752530
DOI: 10.1186/s13256-023-04150-2
PMCID: PMC10523750

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

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.PMID 37752530Read ↗

Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome.Semantic proximity Read ↗

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

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

[A novel mutation of WFS1 gene in Chinese patients with Wolfram syndrome].Semantic proximity Read ↗

Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation.Semantic proximity Read ↗

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.Semantic proximity Read ↗

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

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

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

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.Semantic proximity Read ↗

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