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Article

Wolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective.

International journal of molecular sciences - 12 Feb 2023

Serbis Anastasios, Rallis Dimitrios, Giapros Vasileios, Galli-Tsinopoulou Assimina, Siomou Ekaterini

Abstract excerpt

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-onset non-autoimmune insulin-dependent diabetes mellitus (DM), gradual loss of vision due to optic atrophy (OA) and...

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Identifiers

PMID: 36835101
DOI: 10.3390/ijms24043690
PMCID: PMC9960967

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