In NF1, many of these medications work by blocking a specific cell signaling pathway called Ras/MAPK that is hyperactive in cells that have lost NF1 function due to gene mutation. When this signaling ...

The medication acts as an inhibitor of the RAS/MAPK cellular signaling pathway that is hyperactive in people with NF1. The RAS/MAPK pathway achieves its signaling through a complex form of cell ...

Affected children are born with café-au-lait spots and sometimes Lisch nodules. During adolescence and young adulthood, more ...