Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome

Autor: Drougat, Ludivine, Settas, Nikolaos, Ronchi, Cristina L., Bathon, Kerstin, Calebiro, Davide, Maria, Andrea Gutierrez, Haydar, Sara, Voutetakis, Antonios, London, Edra, Faucz, Fabio R., Stratakis, Constantine A.
Zdroj: Genetics in Medicine; January 2021, Vol. 23 Issue: 1 p174-182, 9p
Abstrakt: Protein kinase A (PKA) subunit defects (in PRKAR1A and PRKACA) are known to contribute to adrenal tumor pathogenesis. We studied the PRKAR1Bgene for any genetic changes in bilateral adrenocortical hyperplasia (BAH) and cortisol-producing adrenal adenomas (CPA).
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