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Autor:
Hans F. A. Vasen, Yael Goldberg, Irene Slavc, Denisa Ilencikova, Anne-Marie Gerdes, Noémie Lavoine, Clara Ruiz-Ponte, Chrystelle Colas, Laurence Brugières, Christian P. Kratz, Alex Duval, Brigit Burkhardt, Martine Muleris, Olivier Caron, Natacha Entz-Werle, Katharina Wimmer
Publikováno v:
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Journal of Medical Genetics, 51(6), 355-365
Servizo Galego de Saúde (SERGAS)
Journal of Medical Genetics, 51(6), 355-365
Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2. The tumour spectrum is very broad