An infant with a heterozygous variant of ABCG5 presented with hypercholesterolemia only during breastfeeding
{{output}}
Sitosterolemia (OMIM #210250) is a rare lipid disorder caused by variants in genes encoding adenosine triphosphate (ATP)-binding cassette subfamily G Member 5 (ABCG5) or 8 (ABCG8), which play roles in the intestinal and biliary excretion of cholesterol and pla... ...
