Frequent Phosphodiesterase 11A Gene (PDE11A) Defects in Patients with Carney Complex (CNC) Caused by PRKAR1A Mutations: PDE11A May Contribute to Adrenal and Testicular Tumors in CNC as a Modifier of the Phenotype

Background: Carney complex (CNC) is an autosomal dominant multiple neoplasia, caused mostly by inactivating mutations of the regulatory subunit 1A of the protein kinase A (PRKAR1A). Primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine manifestation of CNC with a gr...

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Main Authors: Libé, Rossella, Horvath, Anelia, Vezzosi, Delphine, Fratticci, Amato, Coste, Joel, Perlemoine, Karine, Ragazzon, Bruno, Guillaud-Bataille, Marine, Groussin, Lionel, Clauser, Eric, Raffin-Sanson, Marie-Laure, Siegel, Jennifer, Moran, Jason, Drori-Herishanu, Limor, Faucz, Fabio Rueda, Lodish, Maya, Nesterova, Maria, Bertagna, Xavier, Bertherat, Jerome, Stratakis, Constantine A.
Formato: Artigo
Idioma:Inglês
Publicado em: The Endocrine Society 2011
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3038483/
https://ncbi.nlm.nih.gov/pubmed/21047926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2010-1704
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