Toshihiko Yanase

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.

M. Waterman, T. Yanase, R. Ahlgren, 1992, The Journal of clinical endocrinology and metabolism.