A novel homozygous loss-of-function NOTCH3 variant in a Moroccan patient: expanding the spectrum beyond CADASIL
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NOTCH3, a key regulator of vascular smooth muscle cell function within the Notch signaling pathway, is essential for maintaining small artery integrity, especially in cerebral microvasculature. Pathogenic heterozygous missense variants in NOTCH3 cause CADASIL,... ...
