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Identifying Children with Constitutional Mismatch Repair Deficiency (CMMR-D) Syndrome in the Expanding Lynch Syndrome population in Cape Town
INTRODUCTION: Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is a rare tumour predisposition and polyposis syndrome that presents in childhood. It is caused by mutations in mismatch repair (MMR) genes that result in a tumour spectrum including colorectal cancers, high-grade gliomas, non...
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| Format: | Thesis |
| Language: | English |
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Division of Anatomical Pathology
2022
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