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...

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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

Internet

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

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