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Watching the developing brain, scientists glean clues on neurological disorder
Date:11/13/2012

na, causing the cells to get lost on the way to their destinations.

Variants of the Arl13b gene are known to cause Joubert syndrome, which is characterized by brain malformations, abnormal eye and tongue movements, low muscle tone and mental retardation. This is one of the first studies to uncover how mutations of this gene actually disrupt brain development.

"Ultimately, if you're going to come up with therapeutic solutions, it's important to understand the biology of the disease," said Anton. "This contributes to our understanding of the biological processes that are disrupted in Joubert syndrome patients."


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Contact: Les Lang
llang@med.unc.edu
919-966-9366
University of North Carolina Health Care
Source:Eurekalert  

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