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Article

Not Described Variant of Notch3 Gen for Cadasil Disease.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Jul 2020

Mellinger Surai, Romero D, Visich A, Chanampa S, Ivetich G, Burgos M, Orzuza G

Abstract excerpt

Autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL), is a genetic disease caused by mutations in the Notch3 gene. More than 170 monogenic mutations leading to the development of CADASIL have been reported. We describe a case of a patient and her family with compatible symptoms of CADASIL disease, in which a variable not yet described in the Notch3 gene was...

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Identifiers

PMID: 32387185
DOI: 10.1016/j.jstrokecerebrovasdis.2020.104803

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Not Described Variant of Notch3 Gen for Cadasil Disease.PMID 32387185Read ↗

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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 ↗

Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis.Semantic proximity Read ↗

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