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Article

Clinical and genetic characterisation of a series of patients with triple A syndrome.

European journal of pediatrics - 1 Mar 2018

Kurnaz Erdal, Duminuco Paolo, Aycan Zehra, Savaş-Erdeve Şenay, Muratoğlu Şahin Nursel, Keskin Melişah, Bayramoğlu Elvan, Bonomi Marco, Çetinkaya Semra

Abstract excerpt

Triple A syndrome (TAS) or Allgrove syndrome (OMIM #231550) is a rare autosomal recessive disorder characterised by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima, achalasia, and neurological and dermatological abnormalities. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN have been reported in these patients. Between 2006 and 2017, we evaluated six...

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PMID: 29255950
DOI: 10.1007/s00431-017-3068-8

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