A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures

A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures

Summary: PPP2R5C encodes a B-type regulatory subunit of protein phosphatase 2A (PP2A). This protein serine/threonine phosphatase is a component of multiple signaling pathways and is an established negative regulator of cell division, growth, and proliferation. De novo variants in other subunits of P...

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Bibliographic Details
Main Authors: Alison M. Muir, Adi Reich, Fanggeng Zou, Deanna Alexis Carere, Sue Moyer Harasink, Lily Tran, Bobbi McGivern
Format: Article
Language:English
Published: Elsevier 2025-04-01
Series:HGG Advances
Subjects:
PPP2R5C
candidate gene
gene discovery
macrocephaly
seizure
intellectual disability
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247724001349
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http://www.sciencedirect.com/science/article/pii/S2666247724001349

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