July 19, 2018Open Access

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

JRJulie W. RuttenLeiden University Medical Center BEBastian J. Van EijsdenLeiden University Medical Center MDMarco DueringUniversity of Basel

Key Points

Key points are not available for this paper at this time.

Abstract

NOTCH3 pathogenic variant position is the most important determinant of CADASIL disease severity, with EGFr 7-34 pathogenic variant predisposing to a later onset of stroke and longer survival.

Perguntar à IA

Bookmark

View Full Paper