Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report
Abstract Background Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive condition, which is caused by biallelic mutations in mismatch repair genes: MSH2, MLH1, MSH6, and PMS2. Case presentation We reported a unique case of an 11-year-old Chinese girl with colorectal polyp...
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2021-07-01T00:00:00Z.
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