NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review
<i>NOTCH1</i>-related leukoencephalopathy is a new diagnostic entity linked to heterozygous gain-of-function variants in <i>NOTCH1</i> that neuroradiologically show some overlap with the inflammatory microangiopathy Aicardi-Goutières syndrome (AGS). To report a 16-year-old bo...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2024-03-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/25/5/2864 |