The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age.
Lee
Yi-Chung
YC
Yang
An-Hang
AH
Soong
Bing-Wen
BW
D000369:Aged, 80 and over; D000375:Aging; D001921:Brain / Q000473:pathology; D046589:CADASIL / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D012867:Skin / Q000098:blood supply / Q000648:ultrastructure
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch