Cargando…
Genomics of Wolfram Syndrome 1 (WFS1)
Wolfram Syndrome (WFS) is a rare, autosomal, recessive neurogenetic disorder that affects many organ systems. It is characterised by diabetes insipidus, diabetes mellites, optic atrophy, and deafness and, therefore, is also known as DIDMOAD. Nearly 15,000–30,000 people are affected by WFS worldwide,...
Autor principal: | Kõks, Sulev |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10527379/ https://www.ncbi.nlm.nih.gov/pubmed/37759745 http://dx.doi.org/10.3390/biom13091346 |
Ejemplares similares
-
RNA‐sequencing of WFS1‐deficient pancreatic islets
por: Ivask, Marilin, et al.
Publicado: (2016) -
Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome
por: Pan, Yun-Di, et al.
Publicado: (2019) -
Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders
por: Lee, Evan M., et al.
Publicado: (2023) -
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
por: Lee, Evan M., et al.
Publicado: (2023) -
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation
por: Panfili, Eleonora, et al.
Publicado: (2021)