Long-Term Follow-Up of Three Family Members with a Novel <i>NNT</i> Pathogenic Variant Causing Primary Adrenal Insufficiency

Long-Term Follow-Up of Three Family Members with a Novel <i>NNT</i> Pathogenic Variant Causing Primary Adrenal Insufficiency

Nicotinamide nucleotide transhydrogenase (NNT) deficiency causes primary adrenal insufficiency (PAI) and possibly some extra-adrenal manifestations. A limited number of these patients were previously described. We present the clinical and genetic characteristics of three family members with a bialle...

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Bibliographic Details
Main Authors: Tjasa Krasovec, Jaka Sikonja, Mojca Zerjav Tansek, Marusa Debeljak, Sasa Ilovar, Katarina Trebusak Podkrajsek, Sara Bertok, Tine Tesovnik, Jernej Kovac, Jasna Suput Omladic, Michaela F. Hartmann, Stefan A. Wudy, Magdalena Avbelj Stefanija, Tadej Battelino, Primoz Kotnik, Urh Groselj
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Genes
Subjects:
nicotinamide nucleotide transhydrogenase
NNT deficiency
primary adrenal insufficiency
nucleotide duplication
hearth sonography
pubertal development
Online Access:https://www.mdpi.com/2073-4425/13/5/717

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https://www.mdpi.com/2073-4425/13/5/717

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