We describe the casuistry of a homozygous familial hypercholesterolemia female patient with a biallelic missense variant (NM_000527.4:c.1775G>A, p.Gly592Glu) in the LDLR gene, severe hypertriglyceridemia and late manifestation of coronary heart disease not earlier than at the age of 45 years. An atypical phenotype led to a delayed diagnosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jacl.2021.04.006 | DOI Listing |
Publication Analysis
Top Keywords
atypical phenotype
8
case homozygous
4
homozygous familial
4
familial hypercholesterolemia
4
hypercholesterolemia atypical
4
phenotype delayed
4
delayed clinical
4
clinical symptoms
4
symptoms describe
4
describe casuistry
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!