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Article

A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.

Hormone research - 1 Jan 2006

Dusek Tina, Korsic Marta, Koehler Katrin, Perkovic Zdravko, Huebner Angela, Korsic Mirko

Abstract excerpt

OBJECTIVE: The clinical and molecular data of a patient with triple A syndrome are reported. PATIENT: A 21-year-old male who was diagnosed for adrenal insufficiency at the age of 2 years after a severe attack of adrenal crisis. At the age of 4 years, achalasia and alacrima were diagnosed. Puberty started at the age of 17 years. At the same time, symptoms of central, peripheral, and autonomic nervous system...

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Source

Identifiers

PMID: 16543750
DOI: 10.1159/000092003

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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