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

BACKGROUND: 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. We have developed a targeted exome sequencing approach...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3281774/
https://www.ncbi.nlm.nih.gov/pubmed/22226368
http://dx.doi.org/10.1186/1471-2350-13-3

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