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Over the last 5 years, we have evaluated six subjects with the clinical diagnosis of AAAS. Three subjects had mutations in the <jats:italic>AAAS<\/jats:italic> gene \u2013 including one novel mutation (IVS8+1 G&gt;A) \u2013 and a broad spectrum of clinical presentations. However, three subjects with classic AAAS did not have mutations in the <jats:italic>AAAS<\/jats:italic> gene on both alleles. This finding supports the notion of genetic heterogeneity for this disorder, although other genetic mechanisms cannot be excluded.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2005.00482.x","type":"journal-article","created":{"date-parts":[[2005,8,11]],"date-time":"2005-08-11T13:05:09Z","timestamp":1123765509000},"page":"215-221","source":"Crossref","is-referenced-by-count":82,"title":["Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 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