Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1

Pediatric Blood and Cancer

Volumn 60, Issue 1, 2013, Pages 137-139

  Yeung, Jacky T ^a   Pollack, Ian F ^b   Shah, Sapana ^b   Jaffe, Ronald ^b   Nikiforova, Marina ^b   Jakacki, Regina I ^b  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

Constitutional mismatch repair deficiency syndrome (CMMR D); Optic pathway glioma; PMS2

Indexed keywords

CARBOPLATIN; MISMATCH REPAIR PROTEIN PMS2; OCTREOTIDE; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; TEMOZOLOMIDE; VINBLASTINE; VINCRISTINE;

ARTICLE; ATTENTION DEFICIT DISORDER; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CHILD; COLON ANASTOMOSIS; COLON POLYP; COLONOSCOPY; CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME; CONTRAST ENHANCEMENT; DRUG WITHDRAWAL; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IMMUNOHISTOCHEMISTRY; IRON DEFICIENCY ANEMIA; IRON THERAPY; MALE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; NEUROFIBROMATOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSTRUCTIVE HYDROCEPHALUS; OCCULT BLOOD TEST; OPTIC NERVE GLIOMA; PERIPHERAL NEUROPATHY; POLYMERASE CHAIN REACTION; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; QUADRIPLEGIA; SCHOOL CHILD; TUMOR SUPPRESSOR GENE;

CHILD, PRESCHOOL; DNA MISMATCH REPAIR; DNA REPAIR-DEFICIENCY DISORDERS; HUMANS; MALE; NEUROFIBROMATOSIS 1; OPTIC NERVE GLIOMA;

EID: 84870171720     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24254     Document Type: Article

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