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Article

Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene.

Ophthalmic genetics - 1 Mar 2009

Villanueva-Mendoza Cristina, artínez-Guzmán Oswaldo, Rivera-Parra David, Zenteno Juan Carlos

Abstract excerpt

PURPOSE: Triple A syndrome is a rare autosomal recessive disease characterized by achalasia, alacrima, adrenocorticotrophic hormone resistant adrenal failure and some neurologic abnormalities. We report a nine year old patient with alacrima, optic atrophy and achalasia with mutation in the AAAS gene. METHODS: PCR amplification of the complete coding sequence as well as the exon-intron junctions of AAAS gene was...

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Identifiers

PMID: 19172511
DOI: 10.1080/13816810802502962

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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