Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Abstract
Constitutional mismatch repair deficiency syndrome (CMMRD) is the most aggressive cancer predisposition syndrome associated with multiorgan cancers, often presenting in childhood. There is variability in age and presentation of cancers and benign manifestations mimicking neurofibromatosis type 1. Genetic testing may not be informative and is complicated by pseudogenes associated with the most commonly associated gene, PMS2. To date, no...
Paper Details
Title
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Published Date
Feb 23, 2021
Journal
Volume
59
Issue
4
Pages
318 - 327
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