Endocrinology & Metabolic Syndrome

Endocrinology & Metabolic Syndrome
Open Access

ISSN: 2161-1017

+44 1478 350008

Claus B Juhl

Claus B Juhl

Denmark

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

Relevant Topics

Top