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

• Autores principales: Lieber Daniel S (Autor), Vafai Scott B (Autor), Horton Laura C (Autor), Slate Nancy G (Autor), Liu Shangtao (Autor), Borowsky Mark L (Autor), Calvo Sarah E (Autor), Schmahmann Jeremy D (Autor), Mootha Vamsi K (Autor)
• Formato: Libro
• Publicado: BMC, 2012-01-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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....