Associated Papers
Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.
Chan LF et al.
Frontiers in Endocrinology, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 893.339
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
Meimaridou E et al.
Nature Genetics, 2012
22634753 (PubMed )
Supplement: NIHMS48043-supplement-1.pdf
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