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
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.
Al-Hamed MH et al.
Molecular Genetics & Genomic Medicine, 2025
Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.
Musa SA et al.
Frontiers in Endocrinology, 2025
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 patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers.
Jühlen R et al.
Cell Division, 2018
Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
Patt H et al.
Endocrine Connections, 2017
Identification of a novel putative interaction partner of the nucleoporin ALADIN.
Jühlen R et al.
Biology Open, 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
Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome.
Schmittmann-Ohters K et al.
Hormone Research, 2001
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