Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis
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DOI: 10.1136/jmg-2022-108713
Abstract: Background Variants in PPP2R5D, affecting the regulatory B56δ subunit of protein phosphatase 2A (PP2A), have been identified in individuals with neurodevelopmental abnormalities. However, the molecular and clinical spectra remain incompletely understood. Methods Individuals with PPP2R5D… read more here.
Keywords: neurodevelopmental disorders; ppp2r5d related; analysis; related neurodevelopmental ... See more keywords