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Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by biallelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps… Click to show full abstract
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by biallelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café‐au‐lait macules (CALM) and other NF1 signs, but no germline NF1 mutations.
Keywords:
mismatch repair;
constitutional mismatch;
mismatch;
repair deficiency
Journal Title: Clinical Genetics
Year Published: 2018
Link to full text (if available)
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Journal Title: Clinical Genetics
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!