A Novel Heterozygous Pathogenic Mutation of PPP2RIA Gene in a Pediatric Encephalopathy Patient: A Case Report.
Encephalopathy is a syndrome of overall brain dysfunction with unknown causes despite its well-recognized etiology. This study reports clinical laboratory, radiological, and magnetic resonance imaging (MRI) findings as well as wholeexome sequencing (WES) of a female patient aged 19 months and 7 days...
| Publicado en: | Journal of Advances in Medical & Biomedical Research Vol. 31; no. 149; pp. 612 - 617 |
|---|---|
| Autores principales: | , |
| Formato: | case study diagnostic images research randomized controlled trial Journal Article |
| Publicado: |
Zanjan University of Medical Sciences & Health Services
Nov/Dec2023
|
| Acceso en línea: | Ver este registro en EBSCOhost |