1. SHORT REPORT A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype Lili Li,1,2 Nancy Hamel,1,3 Kristi Baker,4,5 Michael…
HOYFanconi anemia: A model disease for studies on human genetics and advanced therapeutics Genome Instability and DNA Repair Group, Department of Genetics and Microbiology,