Article

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

2023-06-10

Abstract excerpt

The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genet...

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Literature Corpus work: 2b1c186b-d264-5228-8f93-835b819ca758
DOI: 10.1101/2023.06.06.23290887

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