Associated Papers
Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.
Juścińska E et al.
Neurogenetics, 2026
41498959 (PubMed )
Supplement: 10048_2025_870_MOESM1_ESM.docx
Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.
Musa SA et al.
Frontiers in Endocrinology, 2025
Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases.
Hentschel A et al.
Orphanet Journal of Rare Diseases, 2021
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.
Bitetto G et al.
Human Molecular Genetics, 2019
Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.
Singh K et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
Patt H et al.
Endocrine Connections, 2017
Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome.
Reimann J et al.
Journal of Neuropathology and Experimental Neurology, 2017
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