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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...
Autores principales: | Dias, R P, Chan, L F, Metherell, L A, Pearce, S H S, Clark, A J L |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioScientifica
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808202/ https://www.ncbi.nlm.nih.gov/pubmed/19903795 http://dx.doi.org/10.1530/EJE-09-0720 |
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