Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14

Abstract excerpt

Abstract Objective To characterize the clinical features and neuropathology associated with recessive VAC14 mutations. Methods Whole‐exome sequencing was used to identify the genetic etiology of a rapidly progressive neurological disease presenting in early childhood in two deceased siblings with distinct neuropathological features on post mortem examination. Results We identified compound heterozygous variants...

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