Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. [electronic resource]
Producer: 20080506Description: 1268-70 p. digitalISSN:- 1545-5017
- Adenosine Triphosphatases -- genetics
- Adolescent
- Alleles
- Cafe-au-Lait Spots -- complications
- Colorectal Neoplasms, Hereditary Nonpolyposis -- complications
- DNA Mismatch Repair
- DNA Repair Enzymes -- genetics
- DNA-Binding Proteins -- genetics
- Germ-Line Mutation
- Humans
- Male
- Mismatch Repair Endonuclease PMS2
- Mutation, Missense
- Pedigree
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Publication Type: Case Reports; Journal Article
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