A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene

PURPOSE: Wolfram syndrome is a rare genetic disorder characterized by juvenile onset of diabetes mellitus with bilateral optic atrophy. We report a case of adult onset Wolfram syndrome with diabetes mellitus at age 22 and optic atrophy after age 40. The WFS1 gene sequence was analyzed in the patient...

Descripción completa

Detalles Bibliográficos
Autores principales: Lee, Jinhee, Iwasaki, Takuya, Kaida, Tomoko, Chuman, Hideki, Yoshimura, Akiko, Okamoto, Yuji, Takashima, Hiroshi, Miyata, Kazunori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8790281/
https://www.ncbi.nlm.nih.gov/pubmed/35112031
http://dx.doi.org/10.1016/j.ajoc.2022.101315

Ejemplares similares

Ejemplares similares