First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient.

Michele RagnoLuigi PianeseSara TiberiGabriella CacchiòCristina PaciLuigi Trojano

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)

Keyphrases

case report
copy number
middle aged
genome wide
cell proliferation
community dwelling
genome wide identification
transcription factor
genome wide analysis