Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature

PPP2R1A-related neurodevelopmental disorder (NDD) is expressed with autosomal dominant inheritance and is typically caused by a pathogenic de novo PPP2R1A mutation. It is characterized by the predominant features of hypotonia, developmental delay, moderate-to-severe intellectual disability, agenesis...

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Detalles Bibliográficos
Autores principales: Lei, Tingying, Zhen, Li, Yang, Xin, Pan, Min, Fu, Fang, Han, Jin, Li, Lushan, Li, Dongzhi, Liao, Can
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859089/
https://www.ncbi.nlm.nih.gov/pubmed/36672867
http://dx.doi.org/10.3390/genes14010126

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859089/
https://www.ncbi.nlm.nih.gov/pubmed/36672867
http://dx.doi.org/10.3390/genes14010126

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