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Article

Triple A syndrome: 32 years experience of a single centre (1977-2008).

European journal of pediatrics - 1 Nov 2010

Milenkovic Tatjana, Zdravkovic Dragan, Savic Natasa, Todorovic Sladjana, Mitrovic Katarina, Koehler Katrin, Huebner Angela

Abstract excerpt

Triple A syndrome is an autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and neurodegeneration. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN have been reported in these patients. Over the period 1977-2008 we evaluated ten subjects with the clinical diagnosis of triple A syndrome. Molecular...

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PMID: 20499090
DOI: 10.1007/s00431-010-1222-7

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