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Article

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

BMC ophthalmology - 24 Jun 2004

Brooks Brian P, Kleta Robert, Caruso Rafael C, Stuart Caroline, Ludlow Jonathan, Stratakis Constantine A

Abstract excerpt

BACKGROUND: Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13. CASE PRESENTATION: We present the case of a 12 year-ol...

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Identifiers

PMID: 15217518
DOI: 10.1186/1471-2415-4-7
PMCID: PMC459227

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15217518-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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