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Article

Triple-A syndrome: a wide spectrum of adrenal dysfunction.

European journal of endocrinology - 1 Mar 2018

Roucher-Boulez Florence, Brac de la Perriere Aude, Jacquez Aude, Chau Delphine, Guignat Laurence, Vial Christophe, Morel Yves, Nicolino Marc, Raverot Gerald, Pugeat Michel

Abstract excerpt

OBJECTIVE: Triple-A or Allgrove syndrome is an autosomal recessive disorder due to mutations in the AAAS gene, which encodes a nucleoporin named ALADIN. It is characterized by a classical clinical triad: alacrima, achalasia and adrenal insufficiency, the canonic symptoms that are associated with progressive peripheral neuropathy. Only a few cohorts have been reported. The objective of the present study was to...

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PMID: 29237697
DOI: 10.1530/EJE-17-0642

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