Article
Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.
PloS one - 1 Jan 2020
Hebert Luke, Hillman Paul, Baker Craig, Brown Michael, Ashley-Koch Allison, Hixson James E, Morrison Alanna C, Northrup Hope, Au Kit Sing
Abstract excerpt
Genes in the noncanonical WNT signaling pathway controlling planar cell polarity have been linked to the neural tube defect myelomeningocele. We hypothesized that some genes in the WNT signaling network have a higher mutational burden in myelomeningocele subjects than in reference subjects in gnomAD. Exome sequencing data from 511 myelomeningocele subjects was obtained in-house and data from 29,940 ethnically...
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