Article
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.
Pediatric research - 1 May 2018
Rigoli Luciana, Bramanti Placido, Di Bella Chiara, De Luca Filippo
Abstract excerpt
Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in death before the age of 50 years. The pathogenesis of WS1 is ascribed to mutations of human WFS1 gene on chromosome 4p encoding a transmembrane protein called wolframin, which has physiological functions in...
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