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

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

<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....

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Bibliographic Details
Main Authors: Lieber Daniel S, Vafai Scott B, Horton Laura C, Slate Nancy G, Liu Shangtao, Borowsky Mark L, Calvo Sarah E, Schmahmann Jeremy D, Mootha Vamsi K
Format: Article
Language:English
Published: BMC 2012-01-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/13/3

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