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USP8 Mutations in Pituitary Cushing Adenomas—Targeted Analysis by Next-Generation Sequencing

Gain-of-function somatic mutations in the ubiquitin specific protease 8 (USP8) gene have recently been reported as a cause of pituitary adenomas in Cushing disease. Molecular diagnostic testing of tumor tissue may aid in the diagnosis of specimens obtained through therapeutic transsphenoidal surgery...

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Detalles Bibliográficos
Autores principales: Ballmann, Cora, Thiel, Anne, Korah, Hannah E, Reis, Anna-Carinna, Saeger, Wolfgang, Stepanow, Stefanie, Köhrer, Karl, Reifenberger, Guido, Knobbe-Thomsen, Christiane B, Knappe, Ulrich J, Scholl, Ute I
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838826/
https://www.ncbi.nlm.nih.gov/pubmed/29600293
http://dx.doi.org/10.1210/js.2017-00364