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- Title
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.
- Authors
Keegan, Catherine E; Hutz, Janna E; Krause, Andrea S; Koehler, Katrin; Metherell, Louise A; Boikos, Sosipatros; Stergiopoulos, Sotirios; Clark, Adrian J L; Stratakis, Constantine A; Huebner, Angela; Hammer, Gary D
- Abstract
ACTH resistance is a feature of several human syndromes with known genetic causes, including familial glucocorticoid deficiency (types 1 and 2) and triple A syndrome. However, many patients with ACTH resistance lack an identifiable genetic aetiology. The human homolog of the Acd gene, mutated in a mouse model of adrenal insufficiency, was sequenced in 25 patients with a clinical diagnosis of familial glucocorticoid deficiency or triple A syndrome.
- Publication
Clinical endocrinology, 2007, Vol 67, Issue 2, p168
- ISSN
0300-0664
- Publication type
Journal Article
- DOI
10.1111/j.1365-2265.2007.02855.x