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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Pubblicato in:JACC Case Rep
Autori principali: Derenbecker, Robert, Kapoor, Karan, Brown, Emily, Leucker, Thorsten, Jones, Steven R., Lokhandwala, Parvez M., Byrne, Kathleen H., Martin, Seth S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2019
Soggetti:
Case Report
Accesso online: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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