Homozygous familial hypercholesterolemia in a young woman with dual gene mutations of low-density lipoprotein receptor and proprotein convertase subtilisin/kexin type 9

Suppressa, P; Carbonara, C; Scialpi, N; Ciavarella, A; Sabba, C

Suppressa, P (corresponding author), Univ Hosp Bari, Dept Internal Med, Piazza Giulio Cesare 11, I-70124 Bari, Italy.; Suppressa, P (corresponding author), Univ Hosp Bari, Rare Dis Ctr C Frugoni, Piazza Giulio Cesare 11, I-70124 Bari, Italy.

JOURNAL OF CLINICAL LIPIDOLOGY, 2020; 14 (2): 192

Abstract

A 28-year-old woman with a rare combination of homozygous LDLR and heterozygous PCSK9 mutations had a phenotype consistent with homozygous familial hy......

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