A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype
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Protein phosphatase 2A (PP2A) is a heterotrimeric protein serine/threonine phosphatase that regulates a diverse range of cellular activities. The PPP2R1A gene on chromosome 19 (19q13.41) encodes the α isoform of the scaffolding subunit of the PP2A holoenzyme,... ...
