Optic pathway glioma as part of a constitutional mismatch‐repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1
Yeung JT, Pollack IF, Shah S, Jaffe R, Nikiforova M, Jakacki RI. Optic pathway glioma as part of a constitutional mismatch‐repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1. Pediatric Blood & Cancer 2012, 60: 137-139. PMID: 22848017, DOI: 10.1002/pbc.24254.Peer-Reviewed Original ResearchConceptsOptic pathway gliomasNeurofibromatosis type 1NF-1Constitutional mismatch repair deficiency syndromeType 1Multiple colonic polypsBi-allelic lossMismatch repair genesConstitutional mismatchCommon manifestationDeficiency syndromeLait spotsDiagnostic criteriaBone marrowColonic polypsHigher likelihoodAffected individualsPatientsPhenotypic featuresRepair genesGliomasBiallelic deletionBowelMalignancySyndrome