2022
DOI: 10.21203/rs.3.rs-2363873/v1
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Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population

Abstract: Up to 40% of genetic and rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Although quantitative approaches are more objective and accurate, most current methods based on European descent populations disregard population ancestry. Here we assessed the facial phenotypes associated to Down (DS), Morquio (MS), Noonan (NS) and Neurofibromatosis type 1 (NF1) syndromes in a Latino-American population from Colombia. We recorded the coordinates of 18 lan… Show more

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