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Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.
Published Web Location
http://europepmc.org/articles/PMC4807911?pdf=renderNo data is associated with this publication.
Abstract
To determine the molecular basis of a severe neurologic disorder in a large consanguineous family with complete agenesis of the corpus callosum (ACC), pontocerebellar hypoplasia (PCH), and peripheral axonal neuropathy.Assessment included clinical evaluatio
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