Author

P. Gitte

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Case report Open access Sep 2026

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

This case expands the LDLRAP1 mutational spectrum and highlights the importance of genetic testing in severe pediatric hypercholesterolemia with normal family lipid profiles and early genetic diagnosis helps distinguish ARH from phenotypically similar disorders.

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