Neurofibromatosis von recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

American Journal of Medical Genetics, Part A

Volumn 139 A, Issue 2, 2005, Pages 96-105

  Østergaard, John R ^a   Sunde, Lone ^a   Okkels, Henrik ^b  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AALBORG UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Caf au lait spots; CNS tumor; Colorectal neoplasia; Hematologic malignancies; HNPCC; MMR genes; MSH6; NF1 phenotype; Turcot syndrome

Indexed keywords

PROTEIN MSH6; DNA BINDING PROTEIN; G T MISMATCH BINDING PROTEIN; G-T MISMATCH-BINDING PROTEIN;

ARTICLE; BASAL GANGLION; CENTRAL NERVOUS SYSTEM TUMOR; CEREBELLUM; CLINICAL FEATURE; COLORECTAL CANCER; CONSANGUINITY; DNA REPAIR; GENE INACTIVATION; GENE MUTATION; GLIOBLASTOMA; MISMATCH REPAIR; NEUROFIBROMATOSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE; CASE REPORT; CHILD; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; MALE; MUTATION; NEOPLASM; ONSET AGE; PEDIGREE; PHENOTYPE; SIBLING;

AGE OF ONSET; CHILD; DNA-BINDING PROTEINS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION; NEOPLASMS; NEUROFIBROMATOSIS 1; PEDIGREE; PHENOTYPE; SIBLINGS;

EID: 33644892563     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.30998     Document Type: Article

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