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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...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2004
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| 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 |