Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia
Claire Palles, Edward Chew, Judith E. Grolleman, Sara Galavotti, Christoffer Flensburg, Erik A. M. Jansen, Helen M. Curley, Laura Chegwidden, Edward H. Arbe-Barnes, Ashish R. Bajel, Kitty Sherwood, Lynn M. Martin, Huw J. W. Thomas, Demetra Georgiou, Florentia Fostira, , Richarda M. de Voer
bioRxiv · Apr 27, 2021 · PreprintGenetics