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Two cases of AMeD syndrome with isochromosome 1q treated with allogeneic stem cell transplantation

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AMeD syndrome is characterized by aplastic anemia, mental retardation, short stature, and microcephaly and is caused by digenic mutations in the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) genes. We have successfully performed hematopoi... ...