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
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  Data: <searchLink fieldCode="AU" term="%22Colas+C%22">Colas C</searchLink>; Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Guerrini-Rousseau+L%22">Guerrini-Rousseau L</searchLink>; Gustave Roussy Cancer Center, Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Suerink+M%22">Suerink M</searchLink>; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Gallon+R%22">Gallon R</searchLink>; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Kratz+CP%22">Kratz CP</searchLink>; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Ayuso+É%22">Ayuso É</searchLink>; Patient representative, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Brugières+L%22">Brugières L</searchLink>; Gustave Roussy Cancer Center, Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Wimmer+K%22">Wimmer K</searchLink>; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. Katharina.wimmer@i-med.ac.at.
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  Data: <searchLink fieldCode="CA" term="%22ERN+GENTURIS+CMMRD+Guideline+Group%22">ERN GENTURIS CMMRD Guideline Group</searchLink>
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        Value: 10.1038/s41431-024-01708-6
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              Text: 2024 Dec
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