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Case Reports

 

Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation


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CER3721
2010 Vol.28, N°4
PI 0556, PF 0557
Case Reports

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PMID: 20810036 [PubMed]

Received: 21/03/2010
Accepted : 01/06/2010
In Press: 30/08/2010
Published: 30/08/2010

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.

Rheumatology Article