Endocrinology & Metabolic Syndrome
Open Access

Maria L Hansen

Publications

• Case Report
  Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient
  Author(s): Maria L Hansen, Anja L Frederiksen and Claus B Juhl Maria L Hansen, Anja L Frederiksen and Claus B Juhl
  
  Triple-A syndrome known as Allgroves syndrome classically present with: achalasia, alacrimia and adrenal insufficiency. Ataxia and autonomic dysfunction is additionally described in many cases. We present a case report of a young man of Pakistan origin with achalasia, alacrimia, adrenal insufficiency, ataxia and autonomic dysfunction. Genetic screening identified a novel mutation in the AAAS gene resulting in a homozygous point-mutation.. View More»
  DOI: 10.4172/2161-1017.1000186

  Abstract PDF

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