SEGMENTAL OR MOSAIC NEUROFIBROMATOSIS TYPE 1: A REPORT OF 2 PATIENTS
Keywords:
Genes, Neurofibromatosis 1, Mosaicism
Abstract
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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Published
2014-07-17
How to Cite
Morais, P., & Vieira, F. (2014). SEGMENTAL OR MOSAIC NEUROFIBROMATOSIS TYPE 1: A REPORT OF 2 PATIENTS. Journal of the Portuguese Society of Dermatology and Venereology, 72(1), 125-129. https://doi.org/10.29021/spdv.72.1.234
Section
Case Reports
All articles in this journal are Open Access under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).