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

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

Abstract 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...

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Bibliographic Details
Main Authors: Maryem Sahli, Abdelali Zrhidri, Imad Boualaoui, Imane Cherkaoui Jaouad, Youssef El Kadiri, Yassine Nouini, Abdelaziz Sefiani
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Journal of Medical Case Reports
Subjects:
Wolfram syndrome
Next-generation sequencing
WFS1 gene
Moroccan family
Online Access:https://doi.org/10.1186/s13256-023-04150-2

Internet

https://doi.org/10.1186/s13256-023-04150-2

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