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pro vyhledávání: '"Esther Uijttewaal"'
Autor:
Anna Zachariou, Esther Uijttewaal, Shawn Yost, Richarda M. de Voer, Susan Picton, Bas de Wolf, Anna Elliott, Chiara Marcozzi, Sarah F. Smithson, Gunnar Houge, Elise Ruark, Sandra Hanks, Emma Ramsay, Harriet Wylie, Jonathon Pines, Sheila Seal, Nazneen Rahman, Matthew Clarke, Banafsheh Etemad, Geert J. P. L. Kops, Audrey Smith
Publikováno v:
Nature Genetics, 49, 7, pp. 1148-1151
Nature Genetics, 49, 1148-1151
Nature Genetics, 49(7), 1148-1151. Nature Publishing Group
Nature Genetics, 49, 1148-1151
Nature Genetics, 49(7), 1148-1151. Nature Publishing Group
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, which are features of mosa