A Large Family with Carney Complex Caused by the S147G PRKAR1A Mutation Shows a Unique Spectrum of Disease Including Adrenocortical Cancer

CONTEXT: Most tumors in Carney complex (CNC) are benign, including primary pigmented nodular adrenocortical disease (PPNAD), the main endocrine tumor in CNC. Adrenocortical cancer (AC) has never been observed in the syndrome. Herein, we describe a large Azorean family with CNC caused by a point muta...

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Autori principali: Anselmo, João, Medeiros, Sandra, Carneiro, Victor, Greene, Elizabeth, Levy, Isaac, Nesterova, Maria, Lyssikatos, Charalampos, Horvath, Anelia, Carney, J. Aidan, Stratakis, Constantine A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2012
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Special Features
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3275364/
https://ncbi.nlm.nih.gov/pubmed/22112814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2011-2244
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