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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Case Report
Acesso em linha: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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