P450c17 deficiency: Clinical and molecular characterization of six patients

Rosa, S.; Duff, C.; Meyer, M.; Lang-Muritano, M.; Balercia, G.; Boscaro, M.; Topaloglu, ALİ; Mioni, R.; Fallo, F.; Zuliani, L.; Mantero, F.; Schoenle, E.; Biason-Lauber, A.

doi:10.1210/jc.2006-1486

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)

Publication Type: Article / Article
Volume: 92 Issue: 3
Publication Date: 2007
Doi Number: 10.1210/jc.2006-1486
Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.1000-1007
Çukurova University Affiliated: No

Abstract

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