Open AccessFamilial Glucocorticoid Resistance Caused by a Novel Frameshift Glucocorticoid Receptor Mutation
Author(s) -
Peter Trebble,
Laura Matthews,
John Blaikley,
A Wayte,
Graeme Black,
Anthony Wilton,
David Ray
Publication year - 2010
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - Uncategorized
Resource type - Journals
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2010-0705
Subject(s) - frameshift mutation , glucocorticoid receptor , biology , mutation , glucocorticoid , mutant , endocrinology , medicine , microbiology and biotechnology , genetics , gene
Familial glucocorticoid resistance is a rare condition with a typical presentation of women with hirsutism and hypertension, with or without hypokalemia.
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