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

Daniel S Lieber, Scott B Vafai, Laura C Horton, Nancy G Slate, Shangtao Liu, Mark L Borowsky, Sarah E Calvo, Jeremy D Schmahmann* and Vamsi K Mootha*

BMC Medical Genetics 2012, 13:3  doi:10.1186/1471-2350-13-3