Article
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2017
Zech Michael, Boesch Sylvia, Jochim Angela, Weber Sandrina, Meindl Tobias, Schormair Barbara, Wieland Thomas, Lunetta Christian, Sansone Valeria, Messner Michael, Mueller Joerg, Ceballos-Baumann Andres, Strom Tim M, Colombo Roberto, Poewe Werner, Haslinger Bernhard, Winkelmann Juliane
Abstract excerpt
BACKGROUND: Dystonia is clinically and genetically heterogeneous. Despite being a first-line testing tool for heterogeneous inherited disorders, whole-exome sequencing has not yet been evaluated in dystonia diagnostics. We set up a pilot study to address the yield of whole-exome sequencing for early-onset generalized dystonia, a disease subtype enriched for monogenic causation. METHODS: Clinical whole-exome...
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