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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
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

Internet

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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