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Published in 2021 at "Journal of the Endocrine Society"
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…
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Keywords:
hypercholesterolemia;
syndrome type;
ldl;
cardiofaciocutaneous syndrome ... See more keywords