Browsing by Subject "Neurofibromatosis"
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Population‑specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population
(Scientific reports (Nature Publishing Group), 2023, 2023-04-27)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 ...