Article

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population

2022-12-20

Abstract excerpt

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 (N...

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Literature Corpus work: 386191c3-36a8-5b49-a4f5-3b09c0725537
DOI: 10.21203/rs.3.rs-2363873/v1

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