SEGMENTAL OR MOSAIC NEUROFIBROMATOSIS TYPE 1: A REPORT OF 2 PATIENTS
Segmental neurofibromatosis type 1 (NF1) is characterized by typical features of NF1 limited to one or more body segments, and usually located unilaterally. It is caused by a somatic (rarely gonadal) postzygotic mutation in the NF1 gene, explaining why it should be regarded as a genetic mosaicism instead of a distinct entity from neurofibromatosis. We herein report two patients with segmental NF1 and give an updated overview of the disease.
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