NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
NOTCH1-related leukoencephalopathy is a new diagnostic entity linked to heterozygous gain-of-function variants in NOTCH1 that neuroradiologically show some overlap with the inflammatory microangiopathy Aicardi-Goutières syndrome (AGS). To report a 16-year-old boy harbouring a novel NOTCH1 mutation who presented neuroradiological features suggestive...
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Full title
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10932310
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10932310
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms25052864
