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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| 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 |