Associated Papers
A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review.
Pons Fernández N et al.
Annales D'endocrinologie, 2024
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
Roucher-Boulez F et al.
European Journal of Endocrinology, 2016
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
A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.
Yamaguchi R et al.
Endocrine Journal, 2013
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
Meimaridou E et al.
Nature Genetics, 2012
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