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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...

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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

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