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    Familial adrenocortiocotropin unresponsiveness associated With alacrima and achalasia: Biochemical and molecular studies in two siblings with clincial heterogeneity

    The syndrome of familial adrenocorticotropin (ACTH) unresponsiveness is a rare form of primary adrenal insufficiency, usually without mineralocorticoid deficiency. It is characterized by elevated plasma ACTH c...

    Claudine Heinrichs, Constanine Tsigos, Jean Deschepper… in European Journal of Pediatrics (1995)