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. 2014 May 6;10(5):727. doi: 10.1002/msb.20145092

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© 2014 The Authors. Published under the terms of the CC BY 4.0 license

This is an open access article under the terms of the Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Network diagram showing affected genes in RASopathies. Proteins (PTPN11, SOS1 and SPRED) and protein groups (Ras, including NRAS, HRAS, KRAS and RIT1; GAP, including NF1 and RASA1; Raf, including RAF1 and BRAF; MEK, including MAP2K1 and MAP2K2) are displayed in white boxes and arranged in a network with their respective genes in grey. RASopathy diseases are indicated in blue.

Diseasome of RASopathies and cancer. Each node corresponds to a distinct disorder or cancer type. The size of the node corresponds to the total number of genes (among the 15 genes) that are involved in a particular disease. Abbreviations: NS, Noonan syndrome; NF1, neurofibromatosis type 1; CFC, cardiofaciocutaneous; LS, LEOPARD syndrome; HGF, hereditary gingvial fibromatosis; CM‐AVM, capillary malfunction‐arteriovenous malfunction; ALPS, autoimmune lymphoproliferative syndrome. Suffixes in NS (NS1, NS3, NS4, NS5, NS6, NS7, NS8 and NS‐like) and LS (LS1 to LS3) are different forms of the respective disease according to the classification in the OMIM database.