De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families

De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families

Abstract Background Beta‐propeller protein‐associated neurodegeneration (BPAN) is a rare, X‐linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia in adulthood. BPAN is caused by varia...

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Bibliographic Details
Main Authors:	Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Hong Zhang, Shengnan Wu
Format:	Article
Language:	English
Published:	Wiley 2020-11-01
Series:	Molecular Genetics & Genomic Medicine
Online Access:	https://doi.org/10.1002/mgg3.1499

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