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Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency

BACKGROUND: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease caused by ACTH resistance and leads to isolated glucocorticoid deficiency. Although FGD patients typically have normal mineralocorticoid secretion, subtle alterations in the renin–angiotensin–aldosterone axis...

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Main Authors: Dias, R P, Chan, L F, Metherell, L A, Pearce, S H S, Clark, A J L
格式: Artigo
語言:Inglês
出版: BioScientifica 2010
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2808202/
https://ncbi.nlm.nih.gov/pubmed/19903795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-09-0720
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