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;...

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Bibliografische gegevens
Gepubliceerd in:Neurol Clin Neurosci
Hoofdauteurs: Endo, Hironobu, Uenaka, Takeshi, Satake, Wataru, Suzuki, Yutaka, Tachibana, Hisatsugu, Chihara, Norio, Ueda, Takehiro, Sekiguchi, Kenji, Mariko, Taniguchi‐Ikeda, Kowa, Hisatomo, Kanda, Fumio, Toda, Tatsushi
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2017
Onderwerpen:
Case Reports
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5575553/
https://ncbi.nlm.nih.gov/pubmed/28932395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ncn3.12132
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