S. Usui

Prevalence and impact of a pathogenic CYP27A1 variant on phenotypes among patients with monogenic heterozygous familial hypercholesterolemia

Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disorder caused by pathogenic variants in the cytochrome P450 family 27 subfamily A member 1 (CYP27A1) gene. It remains unclear whether such variants modify the clinical manifestations of familial hypercholesterolemia (FH) arising from defects in...