Sep 2026
Allgrove syndrome in Colombia: clinical characterization and evidence of a possible founder effect
A highly prevalent AAAS variant suggestive of a possible founder effect was identified in the Paisa population and expanded the phenotypic spectrum and underscore the importance of early genetic testing and systematic multidisciplinary surveillance.
Johana Andrea Botero Hernandez, Eder Donadoni Varela Macias, María Victoria Lopera Cañaveral et al.
· Journal of Pediatric Endocri... · 0 citations