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Open Accesshttps://doi.org/10.1136/jmedgenet-2014-102284
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Apr 15, 2014 |
 Citations: 363 |
Affiliation: Innsbruck Medical University, Institut Gustave Roussy, Cancer Institute (WIA), Leiden University Medical Center, Centre de Recherche Saint-Antoine, Inserm, Sorbonne Université, Hannover Medical School, Copenhagen University Hospital, Medical University of Vienna, Fundación Pública Galega de Medicina Xenómica, Centro de Investigación Biomédica en Red, Servicio Gallego de Salud, Uniwersytecki Szpital Dziecięcy, Children's Clinical University Hospital, Centre de Haute Energie, Hadassah Medical CenterConstitutional 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...
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