Browsing Genetics and Epidemiology by author "Pines, Jonathon"
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Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
Yost, S; de Wolf, B; Hanks, S; Zachariou, A; Marcozzi, C; et al. (NATURE PORTFOLIO, 2017-07-01)Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, ...