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Article

Mutations of the AAAS gene in an Indian family with Allgrove's syndrome.

World journal of gastroenterology - 7 Aug 2006

Mukhopadhya Ashis, Danda Sumita, Huebner Angela, Chacko Ashok

Abstract excerpt

The triple A or Allgrove's syndrome is an autosomal recessive disorder characterized by the triad of achalasia cardia, alacrima and ACTH resistant adrenocortical insufficiency. Mutations of the Achalasia-Addisonianism-Alacrima-Syndrome (AAAS) gene on chromosome 12q13 are associated with this syndrome. We report an Indian family where two siblings were homozygous for a known mutation of the AAAS gene and presented...

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Identifiers

PMID: 16937455
DOI: 10.3748/wjg.v12.i29.4764
PMCID: PMC4087849

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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