Article

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

2026-05-25

Abstract excerpt

<title>Abstract</title> <p>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 inappropriately managed for their cancer risk. This study aimed to evaluate the effectiveness of a clinical checklist...

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Literature Corpus work: ecdff1a3-2ecb-5425-96fb-e2b54f8212af
DOI: 10.21203/rs.3.rs-9621029/v1

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