Article
Heterogeneity in the molecular basis of ACTH resistance syndrome.
European journal of endocrinology - 1 Jul 2008
Collares Cristhianna Viesti Advincula, Antunes-Rodrigues Jose, Moreira Ayrton Custodio, Franca Suzana Nesi, Pereira Luiz Alberto, Soares Maria Marta Sarquis, Elias Junior Jorge, Clark Adrian J, de Castro Margaret, Elias Lucila Leico Kagohara
Abstract excerpt
OBJECTIVE: ACTH resistance syndromes are rare, autosomal, and genetically heterogeneous diseases that include familial glucocorticoid deficiency (FGD) and triple A syndrome. FGD has been shown to segregate with mutations in the gene coding for ACTH receptor (MC2R) or melanocortin 2 receptor accessory protein (MRAP), whereas mutations in the triple A syndrome (AAAS, Allgrove syndrome) gene have been found in...
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