Author

U. Khedkar

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Case report Open access Sep 2026

Autosomal Recessive Hypercholesterolemia Due to a Novel Homozygous LDLRAP1 Frameshift Mutation.

BACKGROUND Autosomal recessive hypercholesterolemia (ARH) is a rare genetic disorder caused by biallelic pathogenic variants in LDLRAP1 and may closely mimic homozygous familial hypercholesterolemia. CASE SUMMARY A 15-year-old boy presented with painless xanthomas over the buttocks and elbows and severe hypercholeste...

P. Gitte, M. Kharche, U. Khedkar · JACC Case Reports · 0 citations