Novel Variants of PPP2R1A in Catalytic Subunit Binding Domain and Genotype–Phenotype Analysis in Neurodevelopmentally Delayed Patients

Neurodevelopmental disorders (NDDs) are a group of high-incidence rare diseases with genetic heterogeneity. PPP2R1A, the regulatory subunit of protein phosphatase 2A, is a recently discovered gene associated with NDDs. Whole/clinical exome sequencing was performed in five patients with a family with...

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Detalles Bibliográficos
Autores principales: Qian, Yanyan, Jiang, Yinmo, Wang, Ji, Li, Gang, Wu, Bingbing, Zhou, Yuanfeng, Xu, Xiu, Wang, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531206/
https://www.ncbi.nlm.nih.gov/pubmed/37761890
http://dx.doi.org/10.3390/genes14091750

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531206/
https://www.ncbi.nlm.nih.gov/pubmed/37761890
http://dx.doi.org/10.3390/genes14091750

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