Bakry, Doua

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. [electronic resource] - European journal of cancer (Oxford, England : 1990) Mar 2014 - 987-96 p. digital

Publication Type: Journal Article

1879-0852

10.1016/j.ejca.2013.12.005 doi


Adaptor Proteins, Signal Transducing--genetics
Adenosine Triphosphatases--genetics
Adolescent
Cafe-au-Lait Spots--diagnosis
Child
Child, Preschool
DNA Mismatch Repair--genetics
DNA Repair Enzymes--genetics
DNA-Binding Proteins--genetics
Family Health
Female
Humans
Immunohistochemistry
Infant
Male
Microsatellite Instability
Mismatch Repair Endonuclease PMS2
MutL Protein Homolog 1
MutS Homolog 2 Protein--genetics
Mutation
Neoplasms--diagnosis
Nuclear Proteins--genetics
Pedigree
Syndrome