A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

(2013) Yoko Aoki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

Efficacy of imatinib mesylate for the treatment of locally advanced and/or metastatic tenosynovial giant cell tumor/pigmented villonodular synovitis

(2011) Philippe A. Cassier et al.   CANCER

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

(2010) Marco Tartaglia et al.   Annals of the New York Academy of Sciences

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

(2009) Claire Beneteau et al.   EUROPEAN JOURNAL OF HUMAN GENETICS