Cognition and Behavior in Neurofibromatosis Type 1 and Legius Syndrome KU Leuven
Neurofibromatosis Type 1 (NF1)
is a frequent autosomal dominant genetic disorder (1/2700 newborns). It is known as a RASopathy, caused by a mutation in the NF1 gene encoding neurofibromin, which is a negative regulator of the RAS (Rat sarcoma) / MAPK (Mitogen Activated Protein Kinase) pathway. This pathway has an important role in the process of cell proliferation and differentiation. However in recent years, ...