Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome
Einstein (Säo Paulo); 15 (4), 2017
ABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5'UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cat...