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SAT-219 Allgrove Syndrome: How to Suspect a Problem?
Background: Allgrove syndrome (triple A syndrome) is a rare autosomal recessive multisystem disease characterized by adrenal insufficiency, alacrimia and achalasia. It is caused by a mutation in the AAAS gene (12q13) encoding the protein ALADIN (1). This syndrome is often associated with neurologica...
Autores principales: | Volkova, Natalia, Davidenko, Ilia, Dzherieva, Irina, Zibarev, Alexander, Ganenko, Lilia, Reshetnikov, Igor, Sorokina, Julia, Brovkina, Snezhana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209026/ http://dx.doi.org/10.1210/jendso/bvaa046.356 |
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