Associated Papers
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › PMS2
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Li L et al.
Journal of Medical Genetics, 2015
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
Johannesma PC et al.
Clinical Genetics, 2011
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
Herkert JC et al.
European Journal of Cancer (oxford, England : 1990), 2011
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
Durno CA et al.
The American Journal of Gastroenterology, 2010
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
Wimmer K et al.
Human Genetics, 2008
Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation.
Kratz CP et al.
Leukemia, 2008
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