Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.
作者： P. Aguilar-Martinez , C. Y. Lok , S. Cunat , E. Cadet , K. Robson
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摘要: During a screening program we identified 5-year old girl with elevated iron parameters. The child was found to have combination of novel R176C mutation together the G320V in juvenile hemochromatosis gene (HJV). also homozygous for H63D HFE. possibility detecting before onset clinical manifestations raises questions about management such young children order prevent overload.
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