On the edge—A diagnostic odyssey

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 thoug...

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Detalles Bibliográficos
Autores principales: McLean, Hailey, Palmquist, Rachel, Nadauld, Lincoln D., Malone Jenkins, Sabrina, Bonkowsky, Joshua, Filloux, Francis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989017/
https://www.ncbi.nlm.nih.gov/pubmed/35425609
http://dx.doi.org/10.1002/ccr3.5688

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989017/
https://www.ncbi.nlm.nih.gov/pubmed/35425609
http://dx.doi.org/10.1002/ccr3.5688

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