Article
Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant of the AAAS gene
2025-07-23
Abstract excerpt
<title>Abstract</title> <p> Allgrove syndrome is a rare, multisystem, autosomal recessive disorder characterized by the triad of symptoms: achalasia, alacrimia and ACTH-resistant adrenal insufficiency. Various and nonspecific neurological symptoms can also develop over time, “blurring” the typical course of this underdiagnosed condition. The incidence of Allgrove syndrome is unknown, Orphanet reports fewer than...
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Identifiers and source
- Literature Corpus work
- 53d84ffb-2316-56b7-a6fa-ddd85c1573ee
- DOI
- 10.21203/rs.3.rs-6962259/v1
