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[Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Feb 2013

Capataz Ledesma M, Méndez Pérez P, Rodríguez López R, Galán Gómez E

Abstract excerpt

Allgrove syndrome (triple A) is a rare autosomal recessive disease. The classic triad includes, congenital adrenal insufficiency due to ACTH resistance, achalasia of the cardia and alacrimia. Neurological abnormalities are associated with autonomic neuropathy, sensory and motor defects, deafness, mental retardation, Parkinsonism and dementia. The gene responsible is the ADRACALIN or AAAS encoding a protein called...

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Identifiers

PMID: 22824007
DOI: 10.1016/j.anpedi.2012.06.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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