In a study on Israeli population, three CMMRD cases involving a bi-allelic pathogenic variant in PMS2 (c.2192T>G), bi-allelic c.1906G<C in MSH2, and compound heterozygous mutation (c.3959_3962delCAAG, c.3984_3987dupGTCA) in MSH6 were reported. Levi et al. reported 11 cases with CMMRD (4 different biallelic PMS2
The text above was approved for publishing by the original author.