Axonal Neuropathy, Microcephaly and VRK1 Mutations

Abstract

Investigators from Baylor College of Medicine, Texas Children's Hospital, Houston, TX; Kennedy Krieger Institute, Baltimore, MD; and University of Minnesota, MN, report 3 patients from 2 unrelated families with a complex neuropathy phenotype characterized by axonal sensorimotor neuropathy, severe nonprogressive microcephaly and cerebral dysgenesis

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