Article
Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population.
Scientific reports - 27 Apr 2023
Echeverry-Quiceno Luis M, Candelo Estephania, Gómez Eidith, Solís Paula, Ramírez Diana, Ortiz Diana, González Alejandro, Sevillano Xavier, Cuéllar Juan Carlos, Pachajoa Harry, Martínez-Abadías Neus
Abstract excerpt
Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Quantitative approaches are more objective, but mostly rely on European descent populations, disregarding diverse population ancestry. Here, we assessed the facial phenotypes of Down (DS), Morquio (MS), Noonan (NS) and Neurofibromatosis type 1 (NF1) syndromes in a Latino-American...
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