Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes

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...

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Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: The Endocrine Society 2009
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Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2690418/
https://ncbi.nlm.nih.gov/pubmed/19293268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2008-2333
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