CMMRD guideline
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ERN GENTURIS guideline on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management
Authors: Chrystelle Colas, Léa Guerrini-Rousseau, Manon Suerink, Richard Gallon, Christian P. Kratz, Éloïse Ayuso, CMMRD Guideline Group, Laurence Brugières, Katharina Wimmer
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Full guideline document |
Journal Publication1 |
Pocket guide2 |
Plain language summary3 |
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Download the complete guidelines here. |
Published online on 17 October 2024 in the European Journal of Human Genetics: https://doi.org/10.1038/s41431-024-01708-6 |
The pocket guide is available in the following languages (click on a flag to download the corresponding language version):
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The plain language summary is available in the following languages (click on a flag to download the corresponding language version):
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1 The journal publication is a concise version of the full guideline document, published in a peer-reviewed journal. 2 The pocket guide is the guideline summary presented on a pocket card. 3 The plain language summary provides a clear summary of the guideline using non-technical language, making it accessible to a wider network of readers including patients. |
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Other relevant ERN GENTURIS information
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ERN GENTURIS website summary |
Clinical practice guidelines |
ERN GENTURIS care pathway |
ERN GENTURIS patient journey |
ERN GENTURIS publications |
ERN GENTURIS webinars |
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Written by ERN GENTURIS |
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Care pathway - Constitutional Mismatch Repair Deficiency (CMMRD) |
Patient journey – CMMRD syndrome
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Thematic Group 4: Other rare – predominantly malignant – genturis |
ERN GENTURIS webinars - Thematic group 4: Other rare genturis |