P450c17 deficiency: clinical and molecular characterization of six patients.

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

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

Affiliation

Rosa S; University Children's Hospital, Division of Endocrinology and Diabetology, Steinwiesstrasse 75, 8032 Zurich, Switzerland.

J Clin Endocrinol Metab ; 92(3): 1000-7, 2007 Mar.

Article in En | MEDLINE | ID: mdl-17192295

Subject(s)

Gonadal Dysgenesis, 46,XX/genetics; Gonadal Dysgenesis, 46,XY/genetics; Steroid 17-alpha-Hydroxylase/genetics; Adolescent; Adult; Animals; Blood Pressure; COS Cells; Child; Chlorocebus aethiops; DNA Mutational Analysis; Genes, Reporter; Gonadal Dysgenesis, 46,XX/diagnostic imaging; Gonadal Dysgenesis, 46,XX/physiopathology; Gonadal Dysgenesis, 46,XY/diagnostic imaging; Gonadal Dysgenesis, 46,XY/physiopathology; Humans; Mutation; Progesterone/metabolism; Radiography; Steroid 17-alpha-Hydroxylase/metabolism; Transfection

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Collection: 01-internacional Database: MEDLINE Main subject: Steroid 17-alpha-Hydroxylase / Gonadal Dysgenesis, 46,XX / Gonadal Dysgenesis, 46,XY Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Animals / Child / Humans Language: En Journal: J Clin Endocrinol Metab Year: 2007 Document type: Article Affiliation country: Switzerland Country of publication: United States

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