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Article

New insights into the molecular basis of the triple A syndrome.

Endocrine research - 1 Nov 2002

Huebner A, Kaindl A M, Braun R, Handschug K

Abstract excerpt

The triple A syndrome (MIM*231550) is a rare autosomal recessive disorder characterized by adrenocorticotropic hormone (ACTH) resistant adrenal failure, achalasia, alacrima and a variety of neurological and dermatological features. Adrenal insufficiency usually presents in the first decade of life, however in some patients it may occur later in life or may even lack completely. Recently, we and others identified...

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Identifiers

PMID: 12530689
DOI: 10.1081/erc-120016998

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.Semantic proximity Read ↗

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