Medical experts illustrate an array of characteristics presented in patients with HoFH. Erin Michos, MD, MHS: In homozygous FH [familial hypercholesterolemia], the LDL [low-density lipoprotein] ...
Hemochromatosis is a condition in which too much iron builds up in the body. When people inherit the condition via their genes, it can be heterozygous or homozygous. “Heterozygous” means the person ...
The variants of ARPC1B described in the literature are displayed, with the red-highlighted variant indicating the one identified in our patient. (B) The variant identified in our patient is located in ...
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