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On the edge-A diagnostic odyssey.
McLean, Hailey; Palmquist, Rachel; Nadauld, Lincoln D; Malone Jenkins, Sabrina; Bonkowsky, Joshua; Filloux, Francis.
Afiliación
  • McLean H; School of Medicine University of Utah Salt Lake City Utah USA.
  • Palmquist R; Division of Pediatric Neurology University of Utah Salt Lake City Utah USA.
  • Nadauld LD; Intermountain Precision Genomics Intermountain Health Care Salt Lake City Utah USA.
  • Malone Jenkins S; Division of Neonatology University of Utah Salt Lake City Utah USA.
  • Bonkowsky J; Division of Pediatric Neurology University of Utah Salt Lake City Utah USA.
  • Filloux F; Division of Pediatric Neurology University of Utah Salt Lake City Utah USA.
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.
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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
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

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