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
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child.
Mor-Shaked H et al.
European Journal of Human Genetics : Ejhg, 2021
Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.
Metherell LA et al.
Human Mutation, 2016
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
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
Weinberg-Shukron A et al.
Journal of Medical Genetics, 2015
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