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A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bone marrow (BM) failure (BMF) in children and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 patients (from 173 families)… Expand
A germline mutation in PBRM1 predisposes to renal cell carcinoma
- P. Benusiglio, S. Couvé, +19 authors S. Gad
- Biology, Medicine
- Journal of Medical Genetics
- 24 April 2015
Background Many cases of familial renal cell carcinoma (RCC) remain unexplained by mutations in the known predisposing genes or shared environmental factors. There are therefore additional, still… Expand
Germline DDX41 mutations define a significant entity within adult MDS/AML patients.
Germline DDX41 mutations are involved in familial myelodysplastic syndromes (MDS) and acute myeloid leukemias (AML). We analyzed the prevalence and characteristics of DDX41-related myeloid… Expand