2024
DOI: 10.3389/fendo.2024.1431383
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Very early and severe presentation of Triple A syndrome – case report and review of the literature

Maja Cehic,
Katarina Mitrovic,
Rade Vukovic
et al.

Abstract: Triple A syndrome (TAS), also known as Allgrove syndrome (OMIM#231550), is a rare, autosomal recessive disorder characterized by the triad of alacrima, achalasia, and adrenal insufficiency. Additional neurological features may be present in two-thirds of patients, involving central, peripheral, and autonomic nervous system manifestations. TAS is caused by genetic alterations in the AAAS gene on chromosome 12q13, which encodes the nuclear pore complex protein termed ALADIN (ALacrima, Achalasia, aDrenal Insuffic… Show more

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