Novel Mutation in PRKAR1A in Carney Complex
Korean Journal of Pathology
;
: 595-600, 2012.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Peau
/
Cyclic AMP-Dependent Protein Kinases
/
Complexe de Carney
/
Corée
/
Myxome
Limites du sujet:
Humains
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Korean Journal of Pathology
Année:
2012
Type:
Article
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