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Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes. CMMRD syndrome is characterised by early onset malignancies in children.

the turkish journal of pediatrics/turkish journal of pediatrics

Cancer and constitutional mismatch repair deficiency syndrome due to homozygous msh 6 mutation in children with café au lait spots and review of literature