Open AccessP450c17 Deficiency: Clinical and Molecular Characterization of Six Patients
Author(s) -
Stephanie Rosa,
Cameron Duff,
Monika Meyer,
Mariarosaria LangMuritano,
Giancarlo Balercia,
Marco Boscaro,
A. Kemal Topaloğlu,
Roberto Mioni,
Francesco Fallo,
L. Zuliani,
Franco Mantero,
Ε. Schoenle,
Anna BiasonLauber
Publication year - 2006
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2006-1486
Subject(s) - hypokalemia , context (archaeology) , medicine , endocrinology , biology , paleontology
The characteristics of P450c17 deficiency include 46,XY disorder of sex development, hypertension, hypokalemia, and lack of pubertal development.
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