Associated Papers
Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines.
Vazzano Goldstone J et al.
Diagnostic Pathology, 2026
Uncovering a Novel Homozygous MSH6 Variant in a Child Presenting With Glioblastoma: A Case of Constitutional Mismatch Repair Deficiency.
Althomali A et al.
Cureus, 2025
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