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Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, Stewart PM. Draper N, et al. Among authors: tomlinson jw. Nat Genet. 2003 Aug;34(4):434-9. doi: 10.1038/ng1214. Nat Genet. 2003. PMID: 12858176
206 results