Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report


A 40-year-old Japanese woman presented with slowly progressing parkinsonism in adulthood. She had a history of epilepsy with intellectual disability in childhood. In a head magnetic resonance scan, T2-weighted imaging showed low signal intensity areas in the globus pallidus and the substantia nigra; T1-weighted imaging showed a halo in the nigra. Because… (More)
DOI: 10.1111/ncn3.12132

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