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Oxford University Press (OUP), The Journal of Clinical Endocrinology & Metabolism, 1(96), p. E208-E214

DOI: 10.1210/jc.2010-1704

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Frequent Phosphodiesterase 11A Gene (PDE11A) Defects in Patients with Carney Complex (CNC) Caused byPRKAR1AMutations:PDE11AMay Contribute to Adrenal and Testicular Tumors in CNC as a Modifier of the Phenotype

Journal article published in 2011 by Rossella Libé, Anelia Horvath, Delphine Vezzosi, Amato Fratticci, Joel Coste, Karine Perlemoine, Bruno Ragazzon ORCID, Marine Guillaud-Bataille, Lionel Groussin, Eric Clauser, Marie-Laure Raffin-Sanson, Jennifer Siegel, Jason Moran, Limor Drori-Herishanu, Fabio Rueda Faucz ORCID and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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 great inter-individual variability. Germline, protein-truncating mutations of phosphodiesterase type 11A (PDE11A) have been described to predispose to a variety of endocrine tumors, including adrenal and testicular tumors.