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

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-old b...

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Détails bibliographiques
Auteurs principaux: Brooks, Brian P, Kleta, Robert, Caruso, Rafael C, Stuart, Caroline, Ludlow, Jonathan, Stratakis, Constantine A
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2004
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC459227/
https://ncbi.nlm.nih.gov/pubmed/15217518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2415-4-7
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