CMMRD
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare genetic disorder caused by biallelic pathogenic variants in mismatch repair genes (PMS2, MSH6, MLH1, or MSH2) resulting in the development of a variety of different tumors, including brain neoplasms. This study molecularly characterized a Brazilian child with CMMRD, harboring two metachronous brain tumors (medulloblastoma and high-grade glioma), and established a patient-derived xenograft (PDX) of the CMMRD-associated brain tumor.
- 5 samples
- DAC: EGAC50000000013
- Technology: Illumina NovaSeq 6000
DUO:0000018 version: 2021-02-23
not for profit, non commercial use only
This data use modifier indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use.
DUO:0000020 version: 2021-02-23
collaboration required
This data use modifier indicates that the requestor must agree to collaboration with the primary study investigator(s).