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Paper Details

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
23
2021
B55, B55 subunit, ID, Macrocephaly, NDD, Neurodevelopmental disorders, PP2A, PP2A scaffolding A subunit, PP2A subunits, PPP2CA, PPP2R1A, PPP2R5D, corpus callosum hypoplasia, developmental delay, epilepsy, hypermobile joints, hypotonia, intellectual disability, language delay, microcephaly, neurodevelopmental disorders, patients, protein phosphatase 2A, protein phosphatase 2A (PP2A) dysfunction, seizures, striatin
Author NameAffiliation
Sarju G MehtaAddenbrookes Hospital
Wendy K ChungColumbia University Medical Center
Wendy K ChungColumbia University Medical Center
William G WilsonUniversity of Virginia
Jennifer A SullivanDuke University Medical Center
Vandana ShashiDuke University Medical Center
Rizwan HamidVanderbilt University Medical Center
Rizwan HamidVanderbilt University Medical Center
Vickie HannigVanderbilt University Medical Center
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Release 1.2