Type 1 early infantile epileptic encephalopathy: A case report and literature review
Abstract Background Variants in the Aristaless‐related homeobox (ARX) gene lead to a variety of phenotypes, with intellectual disability being a steady feature. Other features can include severe epilepsy, spasticity, movement disorders, hydranencephaly, and ambiguous genitalia in males. X‐linked Oht...
Bewaard in:
| Hoofdauteurs: | , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Wiley
2024-02-01
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| Reeks: | Molecular Genetics & Genomic Medicine |
| Onderwerpen: | |
| Online toegang: | https://doi.org/10.1002/mgg3.2412 |
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