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

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 variants in W...

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Detalles Bibliográficos
Autores principales: Tang, Xiaojun, Lan, Xiaoping, Song, Xiaozhen, Xu, Wuhen, Zhang, Yuanfeng, Zhang, Hong, Wu, Shengnan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667327/
https://www.ncbi.nlm.nih.gov/pubmed/33037762
http://dx.doi.org/10.1002/mgg3.1499

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667327/
https://www.ncbi.nlm.nih.gov/pubmed/33037762
http://dx.doi.org/10.1002/mgg3.1499

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