AP39P cells, skin fibroblasts from a patient with aplastic anemia, mental retardation, and dwarfism syndrome, harbored compound heterozygous mutations in the alcohol dehydrogenase 5 (ADH5) gene (c.564+1G>A, c.832G>C; Fig. 8c) and a heterozygous mutation in aldehyde dehydrogenase 245,46. Here, ADH5 is linked to aplastic anemia.