Article
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype.
Gene - 1 Nov 2012
Elli Francesca M, Ghirardello Stefano, Giavoli Claudia, Gangi Silvana, Dioni Laura, Crippa Milena, Finelli Palma, Bergamaschi Silvia, Mosca Fabio, Spada Anna, Beck-Peccoz Paolo
Abstract excerpt
Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus (DI), insulin-dependent diabetes mellitus (DM), optic atrophy (OA) and deafness caused by mutations in WFS1 gene (4p16.1), which encodes an endoplasmic reticulum protein, called Wolframin. We describe the case of an infant who presented hypernatremia and severe hypoplasia of the left eyeball with alteration of visual...
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