Article
Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41.
Genes, chromosomes & cancer - 1 Dec 2018
Diness Birgitte R, Risom Lotte, Frandsen Thomas L, Hansen Bente, Andersen Mette K, Schmiegelow Kjeld, Wadt Karin A W
Abstract excerpt
DDX41 has recently been identified as a new autosomal dominantly inherited cancer predisposition syndrome causing increased risk of adult onset acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). We report for the first time compound heterozygote germline missense DDX41 mutations located in the DEAD-box domain, identified in two siblings by exome sequencing. Both siblings have slight dysmorphic...
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