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Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant aretriopathy with subcortical infarcts and leukoencephalopathy.

Human genetics - 1 Jun 2007

Ferreira Susana, Malheiro Filipa, Oliveira João Paulo

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Identifiers

PMID: 17879453

Genes

NOTCH3

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Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant aretriopathy with subcortical infarcts and leukoencephalopathy.PMID 17879453Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation.Semantic proximity Read ↗

Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.Semantic proximity Read ↗

Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.Semantic proximity Read ↗

A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.Semantic proximity Read ↗

ACER3-Realted Leukoencephalopathy: Expanding The Clinical and Imaging Findings Spectrum Due to Novel VariantsSemantic proximity Read ↗

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisitedSemantic proximity Read ↗

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.Semantic proximity Read ↗

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome.Semantic proximity Read ↗

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