Construct · 1 fields · 1 citations

multilocus genomic variation: a standalone construct

One name. One construct. A landmark on the map.

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multilocusgenomic variation1 CONSTRUCTMultilocus genomicPOSEY · MEDICAL GENETICS

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Medical genetics

the finding of pathogenic variants at two or more loci in one patient, producing distinct or blended phenotypes that can resemble a single new syndrome.

In medical genetics, multilocus genomic variation refers to the finding of pathogenic variants at two or more loci in one patient, producing distinct or blended phenotypes that can resemble a single new syndrome. This meaning comes from Posey (2017) in New England Journal of Medicine.[1]

Unit
Recovery means
Measured by

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Nearby constructs

syndrome3 fields · 3 citationsjingle · one word, three constructsvariation4 fields · 7 citationsjingle · one word, four constructs

References

  1. Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban Akdemir, Z. H., Walkiewicz, M., Bi, W., Xiao, R., Ding, Y., Xia, F., Beaudet, A. L., Muzny, D. M., Gibbs, R. A., Boerwinkle, E., Eng, C. M., Sutton, V. R., Shaw, C. A., Plon, S. E., Yang, Y., & Lupski, J. R. (2017). Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. New England Journal of Medicine, 376(1), 21-31. https://doi.org/10.1056/nejmoa1516767

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