Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review

Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness. Wolfram syndrome, however, is phenotypically heterogenous with variab...

Descripción completa

Detalles Bibliográficos
Autores principales: Jauregui, Ruben, Abreu, Nicolas J., Golan, Shani, Panarelli, Joseph F., Sigireddi, Meenakshi, Nayak, Gopi K., Gold, Doria M., Rucker, Janet C., Galetta, Steven L., Grossman, Scott N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10376978/
https://www.ncbi.nlm.nih.gov/pubmed/37508961
http://dx.doi.org/10.3390/brainsci13071030

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10376978/
https://www.ncbi.nlm.nih.gov/pubmed/37508961
http://dx.doi.org/10.3390/brainsci13071030

Ejemplares similares