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Updated: Jul 30, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Phenotypic heterogeneity in AAAS gene mutation
P Barat1, C Goizet, A Tullio-Pelet
1Department of Paediatrics, Hôpital Pellegrin-Enfants, Bordeaux, France. baratp@club-internet.fr
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 phenotypic heterogeneity reported in triple A syndrome, and underline the possibility of a variable intra-familial expression.
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