Novel Mutation in PRKAR1A in Carney Complex
Korean Journal of Pathology
;
: 595-600, 2012.
Artículo
en Inglés
| WPRIM
| ID: wpr-45634
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Piel
/
Proteínas Quinasas Dependientes de AMP Cíclico
/
Complejo de Carney
/
Corea (Geográfico)
/
Mixoma
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Korean Journal of Pathology
Año:
2012
Tipo del documento:
Artículo
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