Article
A NOVEL GLUCOCORTICOID RECEPTOR MUTATION IN PRIMARY GENERALIZED GLUCOCORTICOID RESISTANCE DISEASE.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 2 Jun 2020
Ma Lifen, Tan Xiaozhen, Li Jiaqi, Long Yang, Xiao Zhen, De Ji, Ren Yan, Tian Haoming, Chen Tao
Abstract excerpt
Objective: Primary generalized glucocorticoid resistance (PGGR) is a rare hereditary disease characterized by generalized partial target-tissue insensitivity to glucocorticoids. To date, few cases have been reported, and more cases, especially involving other races, are needed to fully understand this disease. Methods: This study presented a novel glucocorticoid receptor mutation in a PGGR pedigree. The index...
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