Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency
Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6, or PMS2. This syndrome is characterized by a broad spectrum of early-onset malignancies, including hemat...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Thieme Medical and Scientific Publishers Pvt. Ltd.
2024-07-01
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| Series: | Indian Journal of Radiology and Imaging |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1779586 |