Abstract
The authors review the various clinical presentations associated with mosaicism in neurofibromatosis type 1 (NF1) and type 2 (NF2). In mosaicism, an individual resulting from a single fertilization event has two or more genetically distinct cell lines. In the neurofibromatoses, mosaicism results from a postzygotic NF1 or NF2 gene mutation, so that the embryo has a mixture of normal and mutant cells. As the authors discuss, depending on when …
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