CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

Seval Türkmen; Gao Guo; Masoud Garshasbi; Katrin Hoffmann; Amjad J. Alshalah; Claudia Mischung; Andreas Kuss; Nicholas Humphrey; Stefan Mundlos; Peter N. Robinson

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Published in the May 2009 Issue of PLoS Genetics

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