P450c17 deficiency: Clinical and molecular characterization of six patients


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Rosa S., Duff C., Meyer M., Lang-Muritano M., Balercia G., Boscaro M., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.92, no.3, pp.1000-1007, 2007 (SCI-Expanded) identifier identifier identifier

Abstract

Context: The characteristics of P450c17 deficiency include 46, XY disorder of sex development, hypertension, hypokalemia, and lack of pubertal development.