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Article

Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.

European journal of pediatrics - 1 Oct 2012

Dumic Miroslav, Barišic Nina, Kusec Vesna, Stingl Katarina, Skegro Mate, Stanimirovic Andrija, Koehler Katrin, Huebner Angela

Abstract excerpt

UNLABELLED: The triple A syndrome (Allgrove syndrome, OMIM #231550) is caused by autosomal recessively inherited mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. This multisystemic disease is characterised by achalasia, alacrima, adrenal insufficiency and neurological impairment. We analyse long-term clinical follow-up and results of sequencing of the AAAS gene in eight...

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Identifiers

PMID: 22538409
DOI: 10.1007/s00431-012-1745-1

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