
Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient
Keywords: FH, familial hypercholesterolemia; LDL-R, low-density lipoprotein receptor; TC, total cholesterol; LDL-C, low-density lipoprotein-cholesterol; ApoB, apolipoprotein B; PCSK9, pro-protein convertase subtilisin kexin 9; CVD, cardiovascular disease; MRI, magn