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"17-alpha-hydroxylase/17,20-lyase" "deficiency," combined partial
- ... hydroxylase-deficient congenital adrenal hyperplasia Adrenal hyperplasia V Combined 17 alpha-hydroxylase/17,20-lyase deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase ...
- ... lyase activity. Reduction of these activities leads to partial 17α-hydroxylase/17,20-lyase deficiency, while total loss of these activities leads to ... functional characteristics of three novel CYP17A1 mutations causing combined ... deficiency. Horm Res Paediatr. 2010;73(3):198-204. ...