Long-Term Follow-Up of Three Family Members with a Novel NNT 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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Detalles Bibliográficos
Autores principales: Krasovec, Tjasa, Sikonja, Jaka, Zerjav Tansek, Mojca, Debeljak, Marusa, Ilovar, Sasa, Trebusak Podkrajsek, Katarina, Bertok, Sara, Tesovnik, Tine, Kovac, Jernej, Suput Omladic, Jasna, Hartmann, Michaela F., Wudy, Stefan A., Avbelj Stefanija, Magdalena, Battelino, Tadej, Kotnik, Primoz, Groselj, Urh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140979/
https://www.ncbi.nlm.nih.gov/pubmed/35627102
http://dx.doi.org/10.3390/genes13050717

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140979/
https://www.ncbi.nlm.nih.gov/pubmed/35627102
http://dx.doi.org/10.3390/genes13050717

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