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Article

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

Clinical endocrinology - 1 Aug 2007

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 excerpt

OBJECTIVE: 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...

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Source

Identifiers

PMID: 17466001
DOI: 10.1111/j.1365-2265.2007.02855.x

Genes

ACD
MRAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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