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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-07-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-021-01031-9 |