ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management.

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Title: ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management.
Authors: Colas C; Institut Curie, Paris, France., Guerrini-Rousseau L; Gustave Roussy Cancer Center, Villejuif, France., Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Gallon R; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Kratz CP; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Ayuso É; Patient representative, Bordeaux, France., Brugières L; Gustave Roussy Cancer Center, Villejuif, France., Wimmer K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. Katharina.wimmer@i-med.ac.at.
Corporate Authors: ERN GENTURIS CMMRD Guideline Group
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Dec; Vol. 32 (12), pp. 1526-1541. Date of Electronic Publication: 2024 Oct 17.
Publication Type: Journal Article; Practice Guideline; Review
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-024-01708-6