Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL
Summary
Patients with the Y189C mutation of NOTCH3 from the same family display a similar phenotype of CADASIL.
| Authors | Dorszewska J, Kowalska M, Grzegorski T, Dziewulska D, Karmelita-Katulska K, Barciszewska AM, Prendecki M, Gorczyński W, Kozubski W |
|---|---|
| Journal | Folia neuropathologica |
| Publication Date | 2020;58(1):83-92 |
| PubMed | 32337960 |
| DOI | 10.5114/fn.2020.94009 |