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

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

Clin Case Rep. 2018 Feb;6(2):353-362

Authors: Stige KE, Gjerde IO, Houge G, Knappskog PM, Tzoulis C

Abstract
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.

PMID: 29445477 [PubMed]

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