Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines.
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| Title: | Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines. |
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| Authors: | Vazzano Goldstone J; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA., Logan SJ; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Wilkins BJ; Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., MacFarland SP; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Conces M; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA., Boué DR; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA., Pierson CR; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.; Department of Biomedical Education and Anatomy, The Ohio State University College of Medicine, Columbus, OH, USA., Kahwash S; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA., Schieffer KM; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Cottrell CE; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Colace S; Department of Hematology & Oncology, Nationwide Children's Hospital, Columbus, OH, USA., Zajo K; Department of Hematology & Oncology, Nationwide Children's Hospital, Columbus, OH, USA., Shenoy A; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Archana.Shenoy@cchmc.org.; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA. Archana.Shenoy@cchmc.org.; Division of Pathology, Cincinnati Children's Hospital, OH, Cincinnati, United States. Archana.Shenoy@cchmc.org. |
| Source: | Diagnostic pathology [Diagn Pathol] 2026 Jan 22; Vol. 21 (1), pp. 17. Date of Electronic Publication: 2026 Jan 22. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101251558 Publication Model: Electronic Cited Medium: Internet ISSN: 1746-1596 (Electronic) Linking ISSN: 17461596 NLM ISO Abbreviation: Diagn Pathol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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