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초록
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.
키워드
Carney complex; PRKAR1A; PDE11A; Superficial angiomyxoma; PROTEIN-KINASE-A; ENDOCRINE OVERACTIVITY; SPOTTY PIGMENTATION; REGULATORY SUBUNIT; GENE; MYXOMAS; TUMORS; PDE11A
- 제목
- Novel Mutation in PRKAR1A in Carney Complex
- 저자
- Park, Ko Un; Kim, Hyun-Sook; Lee, Seung Kwan; Jung, Woon-Won; Park, Yong-Koo
- 발행일
- 2012-12
- 유형
- Article
- 권
- 46
- 호
- 6
- 페이지
- 595 ~ 600