Article
Diagnosis and Management of Constitutional Mismatch Repair Deficiency Syndrome.
The American surgeon - 1 Sept 2023
Winter Kelly, Tan Martin, Briscoe Eric, Hyde Alan, Daniel Stanley J
Abstract excerpt
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder that has little more than 200 total cases reported as of 2020. Whereas a single mutation in genes responsible for mismatch repair causes the autosomal dominant Lynch syndrome (LS), CMMRD is caused by biallelic heterozygous defects: distinct deleterious mutations on each allele for a single gene. As the...
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