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A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in PRKAR1A, the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented wi...

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Detalles Bibliográficos
Autores principales: Korpaisarn, Sira, Trachoo, Objoon, Panthan, Bhakbhoom, Aroonroch, Rangsima, Suvikapakornkul, Ronnarat, Sriphrapradang, Chutintorn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582444/
https://www.ncbi.nlm.nih.gov/pubmed/28878664
http://dx.doi.org/10.1159/000479585