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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...

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Detalles Bibliográficos
Autores principales: Bailey, Richard, Nyquist, Alexandra, Broome, David Tyler, Zimmerman, Robert S, Makin, Vinni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208463/
http://dx.doi.org/10.1210/jendso/bvaa046.2217