Associated Papers
Cerebellar Ataxia, Impaired Intellectual Development, and Disequilibrium Syndrome-2: A Case Report.
Hochman L et al.
Cureus, 2025
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.
Abdel-Hamid MS et al.
Neurogenetics, 2021
Reduction of WDR81 impairs autophagic clearance of aggregated proteins and cell viability in neurodegenerative phenotypes.
Liu X et al.
Plos Genetics, 2021
An extremely severe phenotype attributed to WDR81 nonsense mutations.
Cappuccio G et al.
Annals of Neurology, 2017
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