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Article

Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene.

Acta paediatrica (Oslo, Norway : 1992) - 1 Sept 2006

Ismail Essam A, Tulliot-Pelet Anna, Mohsen Ameer M, Al-Saleh Qusay

Abstract excerpt

UNLABELLED: Allgrove syndrome (or triple-A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency (glucocorticoid in the majority of cases) and autonomic/neurological abnormalities. This disease is now known to be caused by mutation in the AAAS gene located on chromosome 12q13. Diagnosis should be readily available when the full-blown features are there, but...

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PMID: 16938764
DOI: 10.1080/08035250500538999

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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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