Familial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder. Affected individuals… Click to show full abstract
Familial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder. Affected individuals may carry a heterozygous variant or homozygous/compound heterozygous variants and those with biallelic pathogenic variants present more severe symptoms.
Keywords:
case report;
hypercholesterolemia;
family familial;
report egyptian;
egyptian family;
familial hypercholesterolemia
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2024
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2024
Link to full text (if available)
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recommendations!