Browsing Ciències Bàsiques by Subject "FTL gene"
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Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new cases
(International Journal of Molecular Sciences, 2021)Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder ...