TY - JOUR AU - Groussin, Lionel AU - Horvath, Anelia AU - Jullian, Eric AU - Boikos, Sosipatros AU - Rene-Corail, Fernande AU - Lefebvre, Herve AU - Cephise-Velayoudom, Fritz-Line AU - Vantyghem, Marie-Cristine AU - Chanson, Philippe AU - Conte-Devolx, Bernard AU - Lucas, Miguel AU - Gentil, Alfonso AU - Malchoff, Carl D AU - Tissier, Frédérique AU - Carney, J Aidan AU - Bertagna, Xavier AU - Stratakis, Constantine A AU - Bertherat, Jérôme PY - 2006 DO - 10.1210/jc.2005-2708 UR - http://hdl.handle.net/10668/388 T2 - Journal of Clinical Endocrinology and Metabolism AB - CONTEXT: Primary pigmented nodular adrenocortical disease (PPNAD), a rare cause of corticotropin-independent Cushing syndrome, can be part of Carney complex (CNC), an autosomal dominant multiple neoplasia syndrome characterized by spotty skin... LA - en PB - Endocrine Society KW - mutation KW - disease KW - primary pigmented nodular adrenocortical KW - Medical Subject Headings::Diseases::Endocrine System Diseases::Adrenal Gland Diseases::Adrenal Cortex Diseases KW - Medical Subject Headings::Anatomy::Cells::Cells, Cultured KW - Medical Subject Headings::Diseases::Endocrine System Diseases::Adrenal Gland Diseases::Adrenocortical Hyperfunction::Cushing Syndrome KW - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Serine-Threonine Kinases::Cyclic Nucleotide-Regulated Protein... KW - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Serine-Threonine Kinases::Cyclic Nucleotide-Regulated Protein... KW - Medical Subject Headings::Chemicals and Drugs::Heterocyclic Compounds::Heterocyclic Compounds, 1-Ring::Piperidines::Piperidones::Cycloheximide KW - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Founder Effect KW - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype KW - Medical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Messenger TI - A PRKAR1A Mutation Associated with Primary Pigmented Nodular Adrenocortical Disease in 12 Kindreds TY - research article ER -