Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes

This case report describes a 50-year-old-woman from Southeast Asia with extensive atherosclerotic cardiovascular disease, found to have homozygous familial hypercholesterolemia caused by variants of uncertain significance in both the APOB and LDLR genes. Medications were insufficient, and thus LDL a...

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Foilsithe in:JACC Case Rep
Main Authors: Derenbecker, Robert, Kapoor, Karan, Brown, Emily, Leucker, Thorsten, Jones, Steven R., Lokhandwala, Parvez M., Byrne, Kathleen H., Martin, Seth S.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2019
Ábhair:
Case Report
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8289100/
https://ncbi.nlm.nih.gov/pubmed/34316823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaccas.2019.07.023
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