TY  - GEN
AU  - Bakry,Doua
AU  - Aronson,Melyssa
AU  - Durno,Carol
AU  - Rimawi,Hala
AU  - Farah,Roula
AU  - Alharbi,Qasim Kholaif
AU  - Alharbi,Musa
AU  - Shamvil,Ashraf
AU  - Ben-Shachar,Shay
AU  - Mistry,Matthew
AU  - Constantini,Shlomi
AU  - Dvir,Rina
AU  - Qaddoumi,Ibrahim
AU  - Gallinger,Steven
AU  - Lerner-Ellis,Jordan
AU  - Pollett,Aaron
AU  - Stephens,Derek
AU  - Kelies,Steve
AU  - Chao,Elizabeth
AU  - Malkin,David
AU  - Bouffet,Eric
AU  - Hawkins,Cynthia
AU  - Tabori,Uri
TI  - Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium
SN  - 1879-0852
PY  - 2014///0505
KW  - Adaptor Proteins, Signal Transducing
KW  - genetics
KW  - Adenosine Triphosphatases
KW  - Adolescent
KW  - Cafe-au-Lait Spots
KW  - diagnosis
KW  - Child
KW  - Child, Preschool
KW  - DNA Mismatch Repair
KW  - DNA Repair Enzymes
KW  - DNA-Binding Proteins
KW  - Family Health
KW  - Female
KW  - Humans
KW  - Immunohistochemistry
KW  - Infant
KW  - Male
KW  - Microsatellite Instability
KW  - Mismatch Repair Endonuclease PMS2
KW  - MutL Protein Homolog 1
KW  - MutS Homolog 2 Protein
KW  - Mutation
KW  - Neoplasms
KW  - Nuclear Proteins
KW  - Pedigree
KW  - Syndrome
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ejca.2013.12.005
ER  -