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Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population
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 phenotyp...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10140286/ https://www.ncbi.nlm.nih.gov/pubmed/37106005 http://dx.doi.org/10.1038/s41598-023-33374-x |
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