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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Опубликовано в: :JACC Case Rep
Главные авторы: Derenbecker, Robert, Kapoor, Karan, Brown, Emily, Leucker, Thorsten, Jones, Steven R., Lokhandwala, Parvez M., Byrne, Kathleen H., Martin, Seth S.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2019
Предметы:
Case Report
Online-ссылка: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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