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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發表在:J Endocr Soc
Main Authors: Volkova, Natalia, Davidenko, Ilia, Dzherieva, Irina, Zibarev, Alexander, Ganenko, Lilia, Reshetnikov, Igor, Sorokina, Julia, Brovkina, Snezhana
格式: Artigo
語言:Inglês
出版: Oxford University Press 2020
主題:
Adrenal
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209026/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.356
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