Associated Papers
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
Macke EL et al.
Molecular Genetics & Genomic Medicine, 2022
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.
Bitetto G et al.
Human Molecular Genetics, 2019
Triple A syndrome: two siblings with a novel mutation in the AAAS gene.
Bouliari A et al.
Hormones (athens, Greece), 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
The genetic basis of triple A (Allgrove) syndrome in a Greek family.
Papageorgiou L et al.
Gene, 2013
New ophthalmic features in a family with triple A syndrome.
Moschos MM et al.
International Ophthalmology, 2011
Adult or late-onset triple A syndrome: case report and literature review.
Nakamura K et al.
Journal of the Neurological Sciences, 2010
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
Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management.
Salmaggi A et al.
Hormone Research, 2008
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