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
Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.
Musa SA et al.
Frontiers in Endocrinology, 2025
Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis.
Belmokhtar KY et al.
Molecular Syndromology, 2024
Fertility and sexual activity in patients with Triple A syndrome.
Dumic KK et al.
Frontiers in Endocrinology, 2024
The role of WD40 repeat-containing proteins in endocrine (dys)function.
Hu Y et al.
Journal of Molecular Endocrinology, 2023
Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.
Lorea CF et al.
Cerebellum (london, England), 2020
Case report of a familial triple: a syndrome and review of the literature.
Gaiani F et al.
Medicine, 2020
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
Triple-A syndrome: a wide spectrum of adrenal dysfunction.
Roucher-Boulez F et al.
European Journal of Endocrinology, 2018
Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
Patt H et al.
Endocrine Connections, 2017
Genetic defects in pediatric-onset adrenal insufficiency in Japan.
Amano N et al.
European Journal of Endocrinology, 2017
Neurological features in adult Triple-A (Allgrove) syndrome.
Vallet AE et al.
Journal of Neurology, 2012
A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome.
Huynh T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2009
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
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.
Brooks BP et al.
Bmc Ophthalmology, 2004
New insights into the molecular basis of the triple A syndrome.
Huebner A et al.
Endocrine Research, 2002
Analysis of the AAAS gene in a Japanese patient with triple A syndrome.
Katsumata N et al.
Endocrine Journal, 2002
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.
Handschug K et al.
Human Molecular Genetics, 2001
Mutant WD-repeat protein in triple-A syndrome.
Tullio-Pelet A et al.
Nature Genetics, 2000