Clinical and molecular characteristics of a novel rare <i>de novo</i> variant in <i>PPP2CA</i> in a patient with a developmental disorder, autism, and epilepsy.

Verbinnen, Iris; Procknow, Sara S; Lenaerts, Lisa; Reynhout, Sara; Mehregan, Aujan; Ulens, Chris; Janssens, Veerle; King, Katherine A

Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy.

Verbinnen, Iris; Procknow, Sara S; Lenaerts, Lisa; Reynhout, Sara; Mehregan, Aujan; Ulens, Chris; Janssens, Veerle; King, Katherine A.

Afiliación

Verbinnen I; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.
Procknow SS; KU Leuven Brain Institute (LBI), Leuven, Belgium.
Lenaerts L; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, United States.
Reynhout S; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.
Mehregan A; Laboratory of Protein Phosphorylation and Proteomics, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.
Ulens C; KU Leuven Brain Institute (LBI), Leuven, Belgium.
Janssens V; Laboratory of Structural Neurobiology, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.
King KA; Laboratory of Structural Neurobiology, Department of Cellular and Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.

Front Cell Dev Biol ; 10: 1059938, 2022.

Article en En | MEDLINE | ID: mdl-36531959