Associated Papers
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
De Novo Variants in Siblings: A Rare Occurrence of Two Unrelated Pathogenic Mutations.
Garg D et al.
Movement Disorders Clinical Practice, 2025
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.
Jiang Y et al.
Children (basel, Switzerland), 2024
39201832 (PubMed )
Supplement: children-11-00897-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report.
Yau WY et al.
Parkinsonism & Related Disorders, 2024
Rare missense variants in the PPP2R5D gene associated with Parkinson's disease in the Han Chinese population.
Ning P et al.
Neuroscience Letters, 2022
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