Figure 3From: Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease Results of MitoExome sequencing. Rare, protein-modifying variants were prioritized, revealing a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome [9].Back to article page