Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

• Main Authors: Lieber Daniel S (Author), Vafai Scott B (Author), Horton Laura C (Author), Slate Nancy G (Author), Liu Shangtao (Author), Borowsky Mark L (Author), Calvo Sarah E (Author), Schmahmann Jeremy D (Author), Mootha Vamsi K (Author)
• Format: Book
• Published: BMC, 2012-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose....