Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.

Background The mutation rate of the neurofibromatosis type 1 (NF1) gene is one of the highest in the human genome, with about 50 percent of cases being due to new mutations. We describe a family in which neurofibromatosis type 1 occurred in two siblings with clinically normal parents, and we demonst... View More