Case report: Adult patient with WWOX developmental and epileptic encephalopathy: 40 years of observation
WWOX developmental and epileptic encephalopathy is characterised by drug-resistant epilepsy with onset within the first year of life and severe psychomotor developmental delay. This report presents for the first time a clinical case of an adult patient with a homozygous likely pathogenic variant (p....
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| Hlavní autoři: | , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
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Frontiers Media S.A.
2024-10-01
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| Edice: | Frontiers in Genetics |
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| On-line přístup: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1477466/full |
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