Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines

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Jennifer Vazzano Goldstone; Archana Shenoy

doi:10.1186/s13000-026-01759-x

Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines

Jennifer Vazzano Goldstone & Archana Shenoy · 2026-01-22

Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines

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