GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.
We previously localized the causative gene to a 1.5-cM region on chromosome 2q33-37. In the present study,…
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GRACILE syndrome, a lethal metabolic disorder with iron overload
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