PPP2R5D-Related Intellectual Disability and Neurodevelopmental Delay: A Review of the Current Understanding of the Genetics and Biochemical Basis of the Disorder

Protein Phosphatase 2 Regulatory Subunit B′ Delta (PPP2R5D)-related intellectual disability (ID) and neurodevelopmental delay results from germline de novo mutations in the PPP2R5D gene. This gene encodes the protein PPP2R5D (also known as the B56 delta subunit), which is an isoform of the subunit f...

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Detalles Bibliográficos
Autores principales: Biswas, Dayita, Cary, Whitney, Nolta, Jan A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072873/
https://www.ncbi.nlm.nih.gov/pubmed/32074998
http://dx.doi.org/10.3390/ijms21041286

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072873/
https://www.ncbi.nlm.nih.gov/pubmed/32074998
http://dx.doi.org/10.3390/ijms21041286

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