A novel compound heterozygosity in AAAS gene in two Greek siblings: expanding the genotypic landscape of Allgrove syndrome.

Siokas V, Sokratous M, Tsika A, Liampas I, Pepe G, Marogianni C, Papageorgiou E, Nasioulas G, Stamati P, Ralli S, et al.

Neurogenetics. 2026 May 07; 27(1). PMID: 42091675. Abstract