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
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.
Capalbo D et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.
Jayant SS et al.
Hormones (athens, Greece), 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
A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism.
Cherif Ben Abdallah L et al.
Hormone Research in Paediatrics, 2014
Triple A (Allgrove) syndrome: an unusual association with syringomyelia.
Bizzarri C et al.
Italian Journal of Pediatrics, 2013
Longitudinal neuropsychological profile in a patient with triple a syndrome.
Mazzone L et al.
Case Reports in Pediatrics, 2013
Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.
Krumbholz M et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2006
The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.
Huebner A et al.
Endocrine Research, 2004
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