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Article

Novel Mutations in a Patient with Triple A Syndrome.

Indian pediatrics - 1 Sept 2015

Sanghvi Jyoti, Asati Ajit Anand, Kumar Ravindra, Huebner Angela

Abstract excerpt

BACKGROUND: Triple A syndrome (Allgrove syndrome), a rare autosomal recessive disorder, is characterized by adrenal insufficiency, achalasia cardia and alacrimia. It is caused by mutations in AAAS gene which encodes a protein called ALADIN. CASE CHARACTERISTICS: 8-year-old boy who presented with hypoglycemic seizures, dysphagia, dry eyes and hyperpigmentation. Investigations confirmed achalasia cardia and adrenal...

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Identifiers

PMID: 26519721
DOI: 10.1007/s13312-015-0722-y

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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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Novel Mutations in a Patient with Triple A Syndrome.PMID 26519721Read ↗

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