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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...

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Detalles Bibliográficos
Autores principales: Volkova, Natalia, Davidenko, Ilia, Dzherieva, Irina, Zibarev, Alexander, Ganenko, Lilia, Reshetnikov, Igor, Sorokina, Julia, Brovkina, Snezhana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209026/
http://dx.doi.org/10.1210/jendso/bvaa046.356