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A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of <i>WDR45</i>

Published on 08 Aug 2017.

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- Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy, Reviews in the Neurosciences 30(3),
  DOI: http://doi.org/10.1515/revneuro-2018-0045
- Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants, European Journal of Medical Genetics 62(2),
  DOI: http://doi.org/10.1016/j.ejmg.2018.07.002
- Early-onset presentation of a new subtype of Î˛-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient, European Journal of Medical Genetics 63(3),
  DOI: http://doi.org/10.1016/j.ejmg.2019.103765
- Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration, European Journal of Paediatric Neurology
  DOI: http://doi.org/10.1016/j.ejpn.2020.07.010