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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. · 0 citations

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