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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Sahli, Maryem, Zrhidri, Abdelali, Boualaoui, Imad, Cherkaoui Jaouad, Imane, El Kadiri, Youssef, Nouini, Yassine, Sefiani, Abdelaziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523750/
https://www.ncbi.nlm.nih.gov/pubmed/37752530
http://dx.doi.org/10.1186/s13256-023-04150-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523750/
https://www.ncbi.nlm.nih.gov/pubmed/37752530
http://dx.doi.org/10.1186/s13256-023-04150-2

Ejemplares similares