Wolfram Syndrome 1: A Pediatrician’s and Pediatric Endocrinologist’s Perspective

Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease caused by mutations in WFS1 and WFS2 genes that produce wolframin, a protein involved in endoplasmic reticulum calcium homeostasis and cellular apoptosis. Its main clinical features are diabetes insipidus (DI), early-on...

Descripción completa

Detalles Bibliográficos
Autores principales: Serbis, Anastasios, Rallis, Dimitrios, Giapros, Vasileios, Galli-Tsinopoulou, Assimina, Siomou, Ekaterini
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9960967/
https://www.ncbi.nlm.nih.gov/pubmed/36835101
http://dx.doi.org/10.3390/ijms24043690

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9960967/
https://www.ncbi.nlm.nih.gov/pubmed/36835101
http://dx.doi.org/10.3390/ijms24043690

Ejemplares similares