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Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

  • Author(s): Sherr, Elliott
  • Marsh, APL
  • Lukic, V
  • Pope, K
  • Bromhead, C
  • Tankard, R
  • Ryan, MM
  • Yiu, EM
  • Sim, JCH
  • Delatycki, MB
  • Amor, DJ
  • et al.

Published Web Location

http://europepmc.org/articles/PMC4807911?pdf=render
No 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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