1.
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.