Review
Oct 2026
Delayed diagnosis of familial glucocorticoid deficiency type 4 in a child with epilepsy: a case report and literature review
A pediatric case with a novel NNT variant not previously associated with FGD4 is described, expanding the mutational spectrum of NNT-related FGD4 and emphasizing the importance of considering adrenal insufficiency in children presenting with seizures and hyperpigmentation.
Ni Zhen, Xiao-Yu Ma, Li-Dan Zhang et al.
· Journal of Pediatric Endocri... · 0 citations