Associated Papers
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.
Saffari A et al.
Autophagy, 2022
WDR45, one gene associated with multiple neurodevelopmental disorders.
Cong Y et al.
Autophagy, 2021
Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.
Chen H et al.
European Journal of Medical Genetics, 2019
Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.
Stige KE et al.
Clinical Case Reports, 2018
WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.
Hoffjan S et al.
Molecular and Cellular Probes, 2016
Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.
Rathore GS et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2014
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