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Beta-propeller protein-associated neurodegeneration: a case report and review of the literature

Kjersti Eline Stige, Ivar Otto Gjerde, Gunnar Houge, Per Morten Knappskog, Charalampos Tzoulis

Clinical Case Reports 2018, 6 (2): 353-362

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare disorder, which is increasingly recognized thanks to next-generation sequencing. Due to a highly variable phenotype, patients may present to pediatrics, neurology, psychiatry, or internal medicine. It is therefore essential that physicians of different specialties are familiar with this severe and debilitating condition.

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