Sequence variation in human MSX1: Mendelian tooth agenesis Previous linkage studies of segregating Mendelian traits followed by candidate gene sequencing revealed sequence changes in MSX1 that are undoubtedly pathogenic; they show highly significant statistical association with disease (by segregation through a family) and are associated with a consistent phenotypic pattern of presentation and high penetrance.
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Pitfalls in the phylogenomic evaluation of human disease-causing mutations.
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