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Article

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Jul 2018

Singh Kanika, Puri Ratna Dua, Bhai Pratibha, Arya Archana Dayal, Chawla Garima, Saxena Renu, Verma Ishwar C

Abstract excerpt

Background Triple A syndrome is characterized by achalasia, alacrima and adrenal insufficiency with neurological manifestations occurring later in the course of the disease. It occurs due to biallelic mutations in the AAAS gene which codes for the nuclear pore protein ALADIN. A number of other features have been reported over time in this heterogeneous and multisystemic disorder. Unlike other autosomal recessive...

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Identifiers

PMID: 29874194
DOI: 10.1515/jpem-2018-0023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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