Article
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
The Journal of clinical endocrinology and metabolism - 1 Jun 2009
Bertherat Jérôme, Horvath Anélia, Groussin Lionel, Grabar Sophie, Boikos Sosipatros, Cazabat Laure, Libe Rosella, René-Corail Fernande, Stergiopoulos Sotirios, Bourdeau Isabelle, Bei Thalia, Clauser Eric, Calender Alain, Kirschner Lawrence S, Bertagna Xavier, Carney J Aidan, Stratakis Constantine A
Abstract excerpt
BACKGROUND: The "complex of myxomas, spotty skin pigmentation, and endocrine overactivity," or "Carney complex" (CNC), is caused by inactivating mutations of the regulatory subunit type 1A of the cAMP-dependent protein kinase (PRKAR1A) gene and as yet unknown defect(s) in other gene(s). Delineation of a genotype-phenotype correlation for CNC patients is essential for understanding PRKAR1A function and providing...
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