On the edge-A diagnostic odyssey.
Clin Case Rep
; 10(4): e05688, 2022 Apr.
Article
en En
| MEDLINE
| ID: mdl-35425609
ABSTRACT
The diagnostic odyssey of a child with epileptic encephalopathy was resolved by rapid whole genome sequencing. This identified a rare form of pyridoxine responsive epilepsy due to a pathogenic variant in PLPBP. Access to such potentially life-changing diagnostic technology needs to expand in a thoughtful and equitable manner.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Idioma:
En
Revista:
Clin Case Rep
Año:
2022
Tipo del documento:
Article