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Mineralocorticoid "deficiency," isolated
- ... 54; IMD54 GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4 PubMed Chung TT, Chan LF, Metherell LA, ...
- ... P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency. Fertil Steril. 2014 Feb;101(2):317-22. ...
- ... CYP17A1 gene mutations have been found to cause isolated 17,20-lyase deficiency, which is characterized by abnormal sexual development without ... Miller WL. The genetic and functional basis of isolated 17,20-lyase deficiency. Nat Genet. 1997 Oct;17(2):201-5. ...