Eder Donadoni Varela Macias

Allgrove syndrome in Colombia: clinical characterization and evidence of a possible founder effect

Abstract Objectives Allgrove syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the AAAS gene, characterized by achalasia, alacrima, and adrenal insufficiency, with variable neurological involvement. Genotype–phenotype correlations remain poorly characterized. This study aimed to describe...