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Seung Kwan Lee 1 Article
Novel Mutation in PRKAR1A in Carney Complex
Ko Un Park, Hyun-Sook Kim, Seung Kwan Lee, Woon-Won Jung, Yong-Koo Park
Korean J Pathol. 2012;46(6):595-600.   Published online December 26, 2012
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AbstractAbstract PDF

A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase type 11A (PDE11A) gene. This is the first case wherein extensive genetic studies were performed in a patient with Carney complex in Korea.


Citations to this article as recorded by  
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    Structure.2019; 27(5): 816.     CrossRef
  • Carney Complex with Multiple Cardiac Myxomas, Pigmented Nodular Adrenocortical Hyperplasia, Epithelioid Blue Nevus, and Multiple Calcified Lesions of the Testis: A Case Report
    Hyunchul Kim, Hyun-Yee Cho, Jeong Nam Lee, Kook-Yang Park
    Journal of Pathology and Translational Medicine.2016; 50(4): 312.     CrossRef

JPTM : Journal of Pathology and Translational Medicine