Associated Papers
Clinical and Molecular Spectrum of PPP2R1A-Related Neurodevelopmental Disorders: A Systematic Review.
Lee J et al.
Genes, 2025
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
Prenatal Characterization of Houge-Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations.
Hu J et al.
Molecular Genetics & Genomic Medicine, 2025
Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.
Ji W et al.
Clinical Genetics, 2024
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.
Roldán M et al.
International Journal of Molecular Sciences, 2023
37762002 (PubMed )
Supplement: ijms-24-13699-s001.zip › ijms-2543317-supplementary.pdf
Novel Variants of PPP2R1A in Catalytic Subunit Binding Domain and Genotype-Phenotype Analysis in Neurodevelopmentally Delayed Patients.
Qian Y et al.
Genes, 2023
Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature.
Lei T et al.
Genes, 2023
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 2022
36358993 (PubMed )
Supplement: biomolecules-12-01643-s001.zip › Supplemental_Table_S2____PsychiPPI_in_developmental_delay.xlsx › Sheet1
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Baker EK et al.
American Journal of Medical Genetics. Part A, 2022
Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.
Verbinnen I et al.
Biochemical Society Transactions, 2021
Protein phosphatase 2A - structure, function and role in neurodevelopmental disorders.
Sandal P et al.
Journal of Cell Science, 2021
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lenaerts L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A De Novo Variant Identified in the PPP2R1A Gene in an Infant Induces Neurodevelopmental Abnormalities.
Zhang Y et al.
Neuroscience Bulletin, 2020
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