Published on 14 de enero de 2026 | http://doi.org/10.5867/medwave.2026.01.3155
Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series
Overview of NF1 in the three subjects.
The upper part of the graph depicts chromosome 17, highlighting the chromosomal location of the NF1 gene. Below, the NF1 gene is illustrated along with its 58 exons. In the central section of the figure, the arrows indicate the specific exons where mutations were identified. Finally, the family tree of each subject is presented in the lower part of the figure.
Source: Prepared by the authors of this study.
Source: Prepared by the authors of this study.