Associated Papers
Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families.
Alwan IA et al.
Journal of Clinical & Translational Endocrinology, 2026
A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review.
Pons Fernández N et al.
Annales D'endocrinologie, 2024
A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).
Jazayeri O et al.
European Journal of Medical Genetics, 2015
ACTH resistance: genes and mechanisms.
Meimaridou E et al.
Endocrine Development, 2013
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
Meimaridou E et al.
Nature Genetics, 2012
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