A De Novo Variant Identified in the PPP2R1A Gene in an Infant Induces Neurodevelopmental Abnormalities

Neurosci Bull. 2020 Feb;36(2):179-182. doi: 10.1007/s12264-019-00430-4. Epub 2019 Sep 17.

Authors

Yanghui Zhang¹, Haoxian Li¹, Hua Wang¹, Zhengjun Jia¹, Hui Xi¹, Xiao Mao²

Affiliations

¹ National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, China.
² National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, China. gbtechies@outlook.com.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Brain / pathology
Brain / physiopathology
Developmental Disabilities / genetics*
Evoked Potentials
Humans
Infant
Male
Protein Conformation
Protein Phosphatase 2 / chemistry
Protein Phosphatase 2 / genetics*

Substances

PPP2R1A protein, human
Protein Phosphatase 2