A Case of Beta-Propeller Protein-Associated Neurodegeneration With a Unique Truncating Variant in the WDR45 Gene and Uncommon Clinical and Radiologic Findings
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Springer Science and Business Media LLC
Reference12 articles.
1. Neurodegeneration with brain iron accumulation;Hayflick SJ;Handb Clin Neurol,2018
2. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations;Schneider SA;Mov Disord,2012
3. Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration;Wilson JL;Dev Med Child Neurol,2021
4. Genetics of neurodegeneration with brain iron accumulation;Gregory A;Curr Neurol Neurosci Rep,2011
5. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood;Saitsu H;Nat Genet,2013
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