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

PP2A-related (neuro) developmental disorders are a family of genetic diseases caused by a heterozygous alteration in one of several genes encoding a subunit of type 2A protein phosphatases. Reported affected genes, so far, are PPP2R5D, encoding the PP2A regulatory B56δ subunit; PPP2R1A, encoding the...

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Detalles Bibliográficos
Autores principales: Verbinnen, Iris, Procknow, Sara S., Lenaerts, Lisa, Reynhout, Sara, Mehregan, Aujan, Ulens, Chris, Janssens, Veerle, King, Katherine A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748336/
https://www.ncbi.nlm.nih.gov/pubmed/36531959
http://dx.doi.org/10.3389/fcell.2022.1059938

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748336/
https://www.ncbi.nlm.nih.gov/pubmed/36531959
http://dx.doi.org/10.3389/fcell.2022.1059938

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