Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)

CONTEXT: Classic ACTH resistance, due to disruption of ACTH signaling, accounts for the majority of cases of familial glucocorticoid deficiency (FGD). Recently FGD cases caused by mutations in the mitochondrial antioxidant, nicotinamide nucleotide transhydrogenase, have highlighted the importance of...

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Detalles Bibliográficos
Autores principales: Prasad, Rathi, Chan, Li F., Hughes, Claire R., Kaski, Juan P., Kowalczyk, Julia C., Savage, Martin O., Peters, Catherine J., Nathwani, Nisha, Clark, Adrian J. L., Storr, Helen L., Metherell, Louise A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2014
Materias:
JCEM Online: Advances in Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207928/
https://www.ncbi.nlm.nih.gov/pubmed/24601690
http://dx.doi.org/10.1210/jc.2013-3844

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207928/
https://www.ncbi.nlm.nih.gov/pubmed/24601690
http://dx.doi.org/10.1210/jc.2013-3844

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