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Article

Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity.

Protein and peptide letters - 1 Jan 2020

Pogliaghi Gabriele, Cangiano Biagio, Duminuco Paolo, Vezzoli Valeria, Bonomi Marco

Abstract excerpt

Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by three cardinal symptoms: alacrimia, achalasia and adrenal insufficiency due to ACTH insensitivity. Various progressive neurological abnormalities and skin changes have been described in association with the syndrome. The disease is caused by mutation in the AAAS gene on chromosome 12q13. Mutations in AAAS were identified in more than...

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PMID: 32533814
DOI: 10.2174/0929866527666200613215449

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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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