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Article

Phenotypic heterogeneity in AAAS gene mutation.

Acta paediatrica (Oslo, Norway : 1992) - 1 Sept 2004

Barat P, Goizet C, Tullio-Pelet A, Puel O, Labessan C, Barthelemy A

Abstract excerpt

UNLABELLED: We report the cases of two sibs of North African origin with AAAS gene mutation characterized by the heterogeneity of their phenotype. While an 8-y-old boy presented with acute adrenal insufficiency and mental retardation, the diagnosis was suggested by the clinical history of his 6-y-old sister who had symptomatic achalasia and chronic adrenal failure. CONCLUSION: Our observations corroborate the...

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Identifiers

PMID: 15384895
DOI: 10.1080/08035250410027706

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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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