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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Vazzano+Goldstone+J%22">Vazzano Goldstone J</searchLink>; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Logan+SJ%22">Logan SJ</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Wilkins+BJ%22">Wilkins BJ</searchLink>; Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22MacFarland+SP%22">MacFarland SP</searchLink>; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Conces+M%22">Conces M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Boué+DR%22">Boué DR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pierson+CR%22">Pierson CR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kahwash+S%22">Kahwash S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schieffer+KM%22">Schieffer KM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cottrell+CE%22">Cottrell CE</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Colace+S%22">Colace S</searchLink>; Department of Hematology & Oncology, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Zajo+K%22">Zajo K</searchLink>; Department of Hematology & Oncology, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Shenoy+A%22">Shenoy A</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101251558%22">Diagnostic pathology</searchLink> [Diagn Pathol] 2026 Jan 22; Vol. 21 (1), pp. 17. <i>Date of Electronic Publication: </i>2026 Jan 22.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101251558 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1746-1596 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217461596%22">17461596 </searchLink><i>NLM ISO Abbreviation: </i>Diagn Pathol <i>Subsets: </i>MEDLINE
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              Text: 2026 Jan 22
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