Article
Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.
Seminars in arthritis and rheumatism - 1 Oct 2013
Bader-Meunier Brigitte, Cavé Hélène, Jeremiah Nadia, Magerus Aude, Lanzarotti Nina, Rieux-Laucat Frédéric, Cormier-Daire Valérie
Abstract excerpt
OBJECTIVE: RASopathies (Noonan syndrome (NS) and Noonan-related syndromes) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway (PTPN11, SOS1, RAF, KRAS or NRAS, and SHOC2). Some monogenic conditions are associated with the development of systemic lupus erythematosus (SLE), and a few reports described...
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