A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45

BACKGROUND: Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently identified as causal. WDR45 encodes a beta-propeller scaffold protein...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Tremor Other Hyperkinet Mov (N Y)
Main Authors: Hermann, Andreas, Kitzler, Hagen H., Pollack, Tobias, Biskup, Saskia, Krüger, Stefanie, Funke, Claudia, Terrile, Caterina, Haack, Tobias B.
Formato: Artigo
Idioma:Inglês
Publicado em: Columbia University Libraries/Information Services 2017
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5656753/
https://ncbi.nlm.nih.gov/pubmed/29082105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7916/D8251WB0
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados