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Autor:
Andreas Hermann, Hagen H. Kitzler, Tobias Pollack, Saskia Biskup, Stefanie Krüger, Claudia Funke, Caterina Terille, Tobias B. Haack
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 7 (2017)
Background: Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently identified as causal
Externí odkaz:
https://doaj.org/article/c5f10d7cf4a24ab2880f6efcefb16d82