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
Rare variants and founder effect in the Beauce region of Quebec.
Gagnon M et al.
Communications Biology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Primary adrenal insufficiency in children excluding congenital adrenal hyperplasia: insights from 33-year single-center experience in Tunisia.
Maaloul I et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2025
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
The role of WD40 repeat-containing proteins in endocrine (dys)function.
Hu Y et al.
Journal of Molecular Endocrinology, 2023
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F et al.
Journal of the Endocrine Society, 2021
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Leveille E et al.
Molecular Genetics & Genomic Medicine, 2018
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
Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.
Kallabi F et al.
Archives of Medical Research, 2016
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