A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45

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. WDR45 encodes a beta-propeller scaffold protein...

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Detalles Bibliográficos
Autores principales: Hermann, Andreas, Kitzler, Hagen H., Pollack, Tobias, Biskup, Saskia, Krüger, Stefanie, Funke, Claudia, Terrile, Caterina, Haack, Tobias B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656753/
https://www.ncbi.nlm.nih.gov/pubmed/29082105
http://dx.doi.org/10.7916/D8251WB0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656753/
https://www.ncbi.nlm.nih.gov/pubmed/29082105
http://dx.doi.org/10.7916/D8251WB0

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