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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; Clarke, M; de Voer, R; Etemad, B; Uijttewaal, E; Ramsay, E; Wylie, H; Elliott, A; Picton, S; Smith, A; Smithson, S; Seal, S; Ruark, E; Houge, G; Pines, J; Kops, GJPL; Rahman, N (2017-07)
      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, ...