Diet-Responsive Hypercholesterolemia With Cardiofaciocutaneous Syndrome Type 3
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DOI: 10.1210/jendso/bvab048.628
Abstract: Abstract Background: Molecular basis of diet responsive hypercholesterolemia remains unclear. We report diet-responsive severe hypercholesterolemia in a young female with cardiofaciocutaneous syndrome type 3 (CFC3) due to a heterozygous pathogenic MAP2K1 variant, suggesting a role… read more here.
Keywords: hypercholesterolemia; syndrome type; ldl; cardiofaciocutaneous syndrome ... See more keywords