Add to ORKGConstitutional mismatch repair deficiency (CMMRD) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. Case description An 8yearold girl was diagnosed with CMMRD syndrome after she developed a brain tumour at the age of 4 and a Tcell nonHodgkin lymphoma at the age of 6. She had multiple hyperpigmented skin lesions and died of myelodysplastic syndrome at the age of 11. Conclusion In children with cancer CMMRD syndrome can be recognized particularly if there are multiple primary malignancies and skin hyperpigmentations and hypopigmentations. The parents of these children are at high risk for co...
Background: Cases of children with more than one type of cancer either diagnosed simultaneously or s...
Constitutional mismatch repair deficiency (CMMRD) is a rare and often under-recognized tumour predis...
Introduction: Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive diseas...
Constitutional mismatch repair deficiency (CMMRD) syndrome is characterised by a significantly incre...
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer ...
Item does not contain fulltextBACKGROUND: Constitutional mismatch repair deficiency (CMMR-D) syndrom...
International audienceBackground Constitutional mismatch repair deficiency syndrome (CMMRD) is the m...
Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposi...
Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome...
Abstract Background Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive ...
Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility sy...
Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome...
Constitutional mismatch repair deficiency (CMMRD) is a rare and often under‐recognized tumour predis...
Colorectal carcinoma (CRC) is an extremely rare tumor of childhood that can be associated with cance...
Heterozygous carriers of a pathogenic variant in the mismatch repair genes have an increased risk to...
Background: Cases of children with more than one type of cancer either diagnosed simultaneously or s...
Constitutional mismatch repair deficiency (CMMRD) is a rare and often under-recognized tumour predis...
Introduction: Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive diseas...
Constitutional mismatch repair deficiency (CMMRD) syndrome is characterised by a significantly incre...
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer ...
Item does not contain fulltextBACKGROUND: Constitutional mismatch repair deficiency (CMMR-D) syndrom...
International audienceBackground Constitutional mismatch repair deficiency syndrome (CMMRD) is the m...
Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposi...
Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome...
Abstract Background Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive ...
Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility sy...
Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome...
Constitutional mismatch repair deficiency (CMMRD) is a rare and often under‐recognized tumour predis...
Colorectal carcinoma (CRC) is an extremely rare tumor of childhood that can be associated with cance...
Heterozygous carriers of a pathogenic variant in the mismatch repair genes have an increased risk to...
Background: Cases of children with more than one type of cancer either diagnosed simultaneously or s...
Constitutional mismatch repair deficiency (CMMRD) is a rare and often under-recognized tumour predis...
Introduction: Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive diseas...