Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. [electronic resource]
- Pediatric blood & cancer Jun 2008
- 1268-70 p. digital
Publication Type: Case Reports; Journal Article
1545-5017
10.1002/pbc.21514 doi
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