Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL.

CONCLUSIONS: Patients with the Y189C mutation of NOTCH3 from the same family display a similar phenotype of CADASIL.
PMID: 32337960 [PubMed - in process]

Source: Folia Neuropathologica - April 29, 2020 Category: Pathology Authors: Dorszewska J, Kowalska M, Grzegorski T, Dziewulska D, Karmelita-Katulska K, Barciszewska AM, Prendecki M, Gorczyński W, Kozubski W Tags: Folia Neuropathol Source Type: research