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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799652PMC
http://dx.doi.org/10.1002/ccr3.1358DOI Listing

Publication Analysis

Top Keywords

beta-propeller protein-associated
8
protein-associated neurodegeneration
8
neurodegeneration case
4
case report
4
report review
4
review literature
4
literature beta-propeller
4
neurodegeneration bpan
4
bpan rare
4
rare disorder
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!