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. Author manuscript; available in PMC: 2019 Feb 1.
Published in final edited form as: Am J Med Genet A. 2018 Jul 28;176(8):1711–1722. doi: 10.1002/ajmg.a.38854

FIGURE 1.

FIGURE 1

The RAS/mitogen-activated protein kinase (MAPK) signaling pathway and associated developmental syndromes (indicated by dashed lines). The MAPK signaling pathway of protein kinases is critically involved in cell proliferation, differentiation, motility, apoptosis, and senescence. The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with Noonan (NS), Noonan syndrome with multiple lentigines (NSML)(LEOPARD), neurofibromatosis, type 1 (NF1), capillary malformation–arteriovenous malformation (CM-AVM) due to RAS1 mutations, Costello (CS), Cardiofaciocutaneous (CFC) and Legius syndromes. Figure reprinted from Rauen (2013) with permission from Elsevier. [Color figure can be viewed at wileyonlinelibrary.com]