Associated Papers
Clinical and Molecular Spectrum of PPP2R1A-Related Neurodevelopmental Disorders: A Systematic Review.
Lee J et al.
Genes, 2025
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
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Baker EK et al.
American Journal of Medical Genetics. Part A, 2022
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
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