Andreas Hermann Hagen H Kitzler Tobias Pollack Saskia Biskup Stefanie Krüger Claudia Funke Caterina Terrile Tobias B Haack
10.7916/D8251WB0
Tremor Other Hyperkinet Mov (N Y)
2017 Aug 8;7:465.
bpan nbia senda static encephalopathy of childhood with neurodegeneration in adulthood wdr45 beta-propeller protein-associated neurodegeneration
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/29082105/
Carrier Proteins / genetics Heterozygote Iron Metabolism Disorders / genetics Neuroaxonal Dystrophies / genetics Sequence Deletion
Carrier Proteins / genetics Heterozygote Iron Metabolism Disorders / genetics Neuroaxonal Dystrophies / genetics Sequence Deletion Case Reports Adult Brain / diagnostic imaging Female Humans Iron Metabolism Disorders / diagnostic imaging Iron Metabolism Disorders / drug therapy Neuroaxonal Dystrophies / diagnostic imaging Neuroaxonal Dystrophies / drug therapy Phenotype Carrier Proteins WDR45 protein, human Neurodegeneration with brain iron accumulation (NBIA)
PMC5656753
29082105
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45
2017