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Article

Two novel truncating variants of the AAAS gene causative of the triple A syndrome.

Journal of endocrinological investigation - 1 Jul 2020

Vezzoli V, Duminuco P, Pogliaghi G, Saccone M, Cangiano B, Rosatelli M C, Meloni A, Persani L, Bonomi M

Abstract excerpt

PURPOSE: The triple A syndrome (AAAS) is an inherited condition associated with mutations in the AAAS gene, which encodes a protein of 546 amino acids known as ALADIN (alacrima achalasia adrenal insufficiency neurologic disorder) whose function is not well understood. This protein belongs to the WD-repeat family of regulatory proteins and is located in the nuclear pore complexes. Only a few cohorts of AAAS...

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Identifiers

PMID: 31939195
DOI: 10.1007/s40618-020-01180-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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