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Clin Exp Rheumatol ; 28(4): 556-7, 2010.
Article in English | MEDLINE | ID: mdl-20810036

ABSTRACT

Noonan syndrome is characterised by distinct facial stigmata, short stature and congenital cardiopathy. It has a high genetic heterogeneity and mutations in six different genes can be involved. We report a patient with Noonan syndrome and a novel KRAS mutation who presents systemic lupus erythematosus.


Subject(s)
Lupus Erythematosus, Systemic/epidemiology , Lupus Erythematosus, Systemic/genetics , Mutation/genetics , Noonan Syndrome/epidemiology , Noonan Syndrome/genetics , Proto-Oncogene Proteins/genetics , ras Proteins/genetics , Adolescent , Comorbidity , Female , Genetic Predisposition to Disease/genetics , Humans , Lupus Erythematosus, Systemic/diagnosis , Noonan Syndrome/diagnosis , Proto-Oncogene Proteins p21(ras)
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