Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome
- Resource Type
- Article
- Authors
- 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.
- Source
- Genetics in Medicine; January 2021, Vol. 23 Issue: 1 p174-182, 9p
- Subject
- Language
- ISSN
- 10983600; 15300366
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).