Leigh Anne Stout

Effect of implementation of a clinical checklist on the evaluation of constitutional mismatch repair deficiency in a neurofibromatosis clinic

BACKGROUND: Children with constitutional mismatch repair deficiency (CMMRD) require early and intensive cancer surveillance. Due to phenotypic overlap between CMMRD and neurofibromatosis type 1 (NF1), some children with CMMRD receive an incorrect diagnosis of NF1 and are inapprop...