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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Detalles Bibliográficos
Autores principales: Brooks, Brian P, Kleta, Robert, Caruso, Rafael C, Stuart, Caroline, Ludlow, Jonathan, Stratakis, Constantine A
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2004
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC459227/
https://www.ncbi.nlm.nih.gov/pubmed/15217518
http://dx.doi.org/10.1186/1471-2415-4-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC459227/
https://www.ncbi.nlm.nih.gov/pubmed/15217518
http://dx.doi.org/10.1186/1471-2415-4-7

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