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Article

Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.

Clinical genetics - 1 Sept 2005

Brooks B P, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos S G, Bei T, Bjornson B, Russell L, Chanoine J-P, Tsagarakis S, Kalsner Lr, Stratakis Ca

Abstract excerpt

Triple A syndrome (AAAS, OMIM#231550) is an autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima, neurodegeneration and autonomic dysfunction. Mutations in the AAAS gene on chromosome 12q13 have been reported in several subjects with AAAS. Over the last 5 years, we have evaluated six subjects with the clinical diagnosis of AAAS. Three subjects had mutations in the AAAS gene--...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16098009
DOI: 10.1111/j.1399-0004.2005.00482.x

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