title: Novel Mutation in PRKAR1A in Carney Complex.
abstract: 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.
authors: Indiana University School of Medicine, Indianapolis, IN, USA.
authors: Ko Un
authors: KU
authors: Park
authors: Hyun-Sook
authors: HS
authors: Kim
authors: Seung Kwan
authors: SK
authors: Lee
authors: Woon-Won
authors: WW
authors: Jung
authors: Yong-Koo
authors: YK
authors: Park
keywords: Carney complex; PDE11A; PRKAR1A; Superficial angiomyxoma