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WDR45, 1-BP DEL, NT1007

National Institutes of Health

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NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5

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2017
2017
WDR45 遺伝子変異によるオートファジー関連神経変性症SENDA/BPAN
小児期からの非進行性の知的障害と，成人期以降に急速に進行するジストニアおよびパーキンソン様症状，認知症を呈する疾患が，SENDA/BPAN として確立された．SENDA/BPAN は，脳に鉄沈着を伴う神経変性症（NBIA… 
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