Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. [electronic resource]
Producer: 20140505Description: 987-96 p. digitalISSN:- 1879-0852
- 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
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Publication Type: Journal Article
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