Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD)
Constitutional mismatch repair deficiency (CMMRD) is a hereditary cancer syndrome,
characterised by biallelic germline pathogenic variants in one of the four DNA mismatch …
characterised by biallelic germline pathogenic variants in one of the four DNA mismatch …
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing
Background Hereditary genetic mutations causing predisposition to colorectal cancer are
accountable for approximately 30% of all colorectal cancer cases. However, only a small …
accountable for approximately 30% of all colorectal cancer cases. However, only a small …
[HTML][HTML] A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature …
MN AlAli, AH Zikry, SA AlShammari, MA Zayed… - Cureus, 2022 - ncbi.nlm.nih.gov
The constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and challenging
condition with a poor prognosis. It results from biallelic mismatch repair gene mutations and …
condition with a poor prognosis. It results from biallelic mismatch repair gene mutations and …
[PDF][PDF] Recurrent posterior fossa Group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD).
J Murray Matthew - researchgate.net
Constitutional mismatch repair deficiency (CMMRD) is a hereditary cancer syndrome,
characterised by biallelic germline pathogenic variants in one of the four DNA mismatch …
characterised by biallelic germline pathogenic variants in one of the four DNA mismatch …