Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency
- 1 March 1992
- journal article
- Published by The Endocrine Society in Journal of Clinical Endocrinology & Metabolism
- Vol. 74 (3) , 667-672
- https://doi.org/10.1210/jc.74.3.667
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