Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
Melyssa AronsonChrystelle ColasAndrew ShuenHeather HampelWilliam D FoulkesHagit Baris FeldmanYael GoldbergMartine MulerisKami Wolfe SchneiderRose B McGeeKory JaspersonArun RangaswamiLaurence BrugieresUri TaboriPublished in: Journal of medical genetics (2021)
This position paper summarises the evidence and rationale to provide specific guidelines for CMMRD diagnosis, which necessitates appropriate surveillance and treatment.