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

• Asıl Yazarlar: Lieber Daniel S (Yazar), Vafai Scott B (Yazar), Horton Laura C (Yazar), Slate Nancy G (Yazar), Liu Shangtao (Yazar), Borowsky Mark L (Yazar), Calvo Sarah E (Yazar), Schmahmann Jeremy D (Yazar), Mootha Vamsi K (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2012-01-01T00:00:00Z.
• Konular: article
• Online Erişim: 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....