Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with an ACTH-secreting pituitary adenoma, absence of stigmata of Cushing syndrome, and unusual histologic features

Loss of heterozygosity at the human glucocorticoid receptor (hGRα) gene (NR3C1) locus has been found in pituitary adenomas of patients with Cushing disease (CD); rare cases of NR3C1 mutations have also been described in the gemline or somatic state in CD. We describe a pediatric patient with CD with...

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Publicado en:J Pediatr Endocrinol Metab
Main Authors: Briassoulis, George, Horvath, Anelia, Christoforou, Paola, Lodish, Maya, Xekouki, Paraskevi, Quezado, Martha, Patronas, Nicholas, Keil, Meg F., Stratakis, Constantine A.
Formato: Artigo
Idioma:Inglês
Publicado: 2012
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5590677/
https://ncbi.nlm.nih.gov/pubmed/22570980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/jpem.2011.371
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