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Novel Mutation in PRKAR1A in Carney Complex
- Issue Date
- 12월-2012
- Publisher
- KOREAN SOCIETY PATHOLOGISTS
- Keywords
- Carney complex; PRKAR1A; PDE11A; Superficial angiomyxoma
- Citation
- KOREAN JOURNAL OF PATHOLOGY, v.46, no.6, pp.595 - 600
- Indexed
- SCIE
SCOPUS
KCI
- Journal Title
- KOREAN JOURNAL OF PATHOLOGY
- Volume
- 46
- Number
- 6
- Start Page
- 595
- End Page
- 600
- ISSN
- 1738-1843
- 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.
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