Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series

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Genetic ancestry composition of Ecuadorian subjects with (NF1).

The ternary (De Finetti) diagram shows the proportional contribution of Native American (NAM), African (AFR), and European (EUR) ancestries. Each vertex represents 100% ancestry from the corresponding population (NAM at the apex, AFR at the lower left, and EUR at the lower right). Blue, red, and green dots represent reference individuals of NAM, AFR, and EUR ancestries, respectively. The three Ecuadorian NF1 subjects (A, B, and C) are depicted as yellow dots according to their individual ancestry proportions.
Source: Prepared by the authors of this study.