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KMID : 0357920120460060595
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Korean Journal of Pathology
2012 Volume.46 No. 6 p.595 ~ p.600
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Novel Mutation in PRKAR1A in Carney Complex
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Park Ko-Un
Kim Hyun-Sook
Lee Seung-Kwan
Jung Woon-Won
Park Yong-Koo
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Abstract
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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.
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KEYWORD
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Carney complex, PRKAR1A, PDE11A, Superficial angiomyxoma
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