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SAT-LB43 Allgrove’s: A Syndrome for the “A”ges
Allgrove’s syndrome is an inherited condition caused by mutations in the AAAS gene (encoding the protein ALADIN) and is inherited in an autosomal recessive pattern (1). It classically is characterized by three specific features: achalasia, Addison’s disease, and alacrima (reduced or absent ability t...
Autores principales: | Bailey, Richard, Nyquist, Alexandra, Broome, David Tyler, Zimmerman, Robert S, Makin, Vinni |
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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/PMC7208463/ http://dx.doi.org/10.1210/jendso/bvaa046.2217 |
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