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Article

Chromosomal fragility in patients with triple A syndrome.

American journal of medical genetics. Part A - 15 Feb 2003

Reshmi-Skarja Shalini, Huebner Angela, Handschug Katrin, Finegold David N, Clark Adrian J L, Gollin Susanne M

Abstract excerpt

Triple A syndrome is a rare, autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. Previous studies have shown that the triple A gene (AAAS) maps to chromosomal band 12q13. Mutations in the AAAS gene have been identified in triple A syndrome patients; however, the function of this gene is still obscure. We used classical and high-resolution chromosome analyses along with...

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Identifiers

PMID: 12548737
DOI: 10.1002/ajmg.a.10846

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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