Associated Papers
Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review.
Munteanu CV et al.
Oncology Reviews, 2025
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
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
Krüger S et al.
European Journal of Human Genetics : Ejhg, 2008
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