Jackson, Carl-Christian

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