Constitutional Mismatch Repair-Deficiency Syndrome Is a Rare Cause of Cancer Even in a Highly Consanguineous Population
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency
Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin
