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Dokumenttyp:
journal article 
Autor(en):
Beuschlein, Felix; Fassnacht, Martin; Assié, Guillaume; Calebiro, Davide; Stratakis, Constantine A; Osswald, Andrea; Ronchi, Cristina L; Wieland, Thomas; Sbiera, Silviu; Faucz, Fabio R; Schaak, Katrin; Schmittfull, Anett; Schwarzmayr, Thomas; Barreau, Olivia; Vezzosi, Delphine; Rizk-Rabin, Marthe; Zabel, Ulrike; Szarek, Eva; Salpea, Paraskevi; Forlino, Antonella; Vetro, Annalisa; Zuffardi, Orsetta; Kisker, Caroline; Diener, Susanne; Meitinger, Thomas; Lohse, Martin J; Reincke, Martin; Bertherat,...    »
 
Titel:
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. 
Abstract:
Corticotropin-independent Cushing's syndrome is caused by tumors or hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol-producing adrenal adenomas is not well understood.We performed exome sequencing of tumor-tissue specimens from 10 patients with cortisol-producing adrenal adenomas and evaluated recurrent mutations in candidate genes in an additional 171 patients with adrenocortical tumors. We also performed genomewide copy-number analysis in 35 patients with cortisol-secr...    »
 
Zeitschriftentitel:
N Engl J Med 
Jahr:
2014 
Band / Volume:
370 
Heft / Issue:
11 
Seitenangaben Beitrag:
1019-28 
Sprache:
eng 
Print-ISSN:
0028-4793 
TUM Einrichtung:
Institut für Humangenetik